Chromosomal Abnormalities and Syndromes Quiz
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Questions and Answers

Which chromosomal abnormality results in Klinefelter syndrome?

  • An extra copy of the X chromosome in males (correct)
  • Trisomy of chromosome 21
  • Deletion of a Y chromosome
  • Monosomy of an X chromosome
  • A male patient presents with sterility, testicular atrophy, and gynecomastia. Which chromosomal abnormality is most likely?

  • Triple X syndrome
  • Turner syndrome
  • Klinefelter syndrome (correct)
  • Down syndrome
  • What is the typical karyotype associated with Triple X syndrome?

  • 46, XX
  • 45, XO
  • 47, XXX (correct)
  • 47, XXY
  • A female patient is diagnosed with Triple X syndrome. Which of the following is a typical feature of this conditon?

    <p>Mild physical features often with speech problems (D)</p> Signup and view all the answers

    Which condition is characterized by the 45, X karyotype?

    <p>Turner syndrome (B)</p> Signup and view all the answers

    What is a key characteristic physical feature of Turner syndrome?

    <p>Webbed neck and short stature (B)</p> Signup and view all the answers

    Which of the following numerical chromosomal abnormalities is considered a trisomy of an autosome?

    <p>Down syndrome (B)</p> Signup and view all the answers

    What percentage of fetuses with Turner syndrome are spontaneously aborted?

    <p>98% (D)</p> Signup and view all the answers

    Which cells are directly adjacent to the cytotrophoblast in the developing embryo?

    <p>Amnioblast cells (C)</p> Signup and view all the answers

    What is the primary function of the exocoelomic membrane?

    <p>To line the blastocyst cavity (C)</p> Signup and view all the answers

    What two cell layers compose the bilaminar disc?

    <p>Epiblast and hypoblast (A)</p> Signup and view all the answers

    Which of the following is a glycoprotein produced by the syncytiotrophoblast?

    <p>Human chorionic gonadotropin (hCG) (B)</p> Signup and view all the answers

    What is the primary role of hCG during pregnancy?

    <p>To stimulate production of progesterone by the corpus luteum (C)</p> Signup and view all the answers

    A low level of hCG in maternal blood may indicate:

    <p>Spontaneous abortion or ectopic pregnancy (C)</p> Signup and view all the answers

    What characterizes a hydatidiform mole?

    <p>Absence of an embryo and high hCG levels. (B)</p> Signup and view all the answers

    Which of these is an example of an oncofetal antigen?

    <p>Alpha-fetoprotein (A)</p> Signup and view all the answers

    What is the role of Oocyte Maturation Inhibitor (OMI)?

    <p>To cause an arrested state in oocytes. (B)</p> Signup and view all the answers

    Approximately how many oocytes are present at the beginning of puberty?

    <p>40,000 (D)</p> Signup and view all the answers

    What triggers the monthly maturation of follicles at puberty?

    <p>Follicle-Stimulating Hormone (FSH) (B)</p> Signup and view all the answers

    What is the term for the swollen follicle immediately prior to ovulation?

    <p>Mature vesicular follicle (C)</p> Signup and view all the answers

    Which of the following best describes the timing of the mature vesicular stage in the ovarian cycle?

    <p>Approximately 37 hours prior to ovulation. (C)</p> Signup and view all the answers

    During which phase of meiosis is the oocyte arrested before ovulation?

    <p>Metaphase II (D)</p> Signup and view all the answers

    What is the outcome of oogenesis after meiosis II is complete?

    <p>One viable mature oocyte and three polar bodies. (D)</p> Signup and view all the answers

    What best describes the contents of the pronuclei in the zygote immediately after fertilization?

    <p>A female and male pronucleus each with 23 chromosomes. (A)</p> Signup and view all the answers

    What is the functional unit of the placenta called?

    <p>Chorionic villi (B)</p> Signup and view all the answers

    Which part of the chorion proliferates to form the placenta?

    <p>Chorion frondosum (D)</p> Signup and view all the answers

    What is the result of fertilization of two different secondary oocytes by two different sperms?

    <p>Dizygotic twins (B)</p> Signup and view all the answers

    Which of the following is NOT a characteristic of dizygotic twins?

    <p>Always share a single placenta (A)</p> Signup and view all the answers

    Monozygotic twins result from the fertilization of:

    <p>One secondary oocyte by one sperm. (B)</p> Signup and view all the answers

    If a zygote splits at the two-cell stage, what is the most likely outcome regarding placentas, chorionic sacs, and amniotic sacs?

    <p>2 placentas, 2 chorionic sacs, 2 amniotic sacs. (C)</p> Signup and view all the answers

    What is the term for a twin that dies in the first trimester and becomes compressed?

    <p>Fetus papyraceus (B)</p> Signup and view all the answers

    Which of the following can cause a vanishing twin?

    <p>Twin transfusion syndrome (A)</p> Signup and view all the answers

    Twin transfusion syndrome typically occurs in which type of twins?

    <p>Monozygotic twins with a shared placenta (A)</p> Signup and view all the answers

    Which of the following muscle groups are derived from the primaxial (epaxial) portion of the myotome?

    <p>Erector spinae muscles (C)</p> Signup and view all the answers

    What term describes the complete absence of one or more extremities?

    <p>Amelia (A)</p> Signup and view all the answers

    Which of the following best describes the cause of polydactyly?

    <p>Abnormal duplication of the zone of polarizing activity (ZPA) (B)</p> Signup and view all the answers

    In a cleft hand and foot, which of the following is typically absent?

    <p>Third metacarpal and phalangeal bones (B)</p> Signup and view all the answers

    What is the defining characteristic of arthrogryposis?

    <p>Congenital joint contractures (D)</p> Signup and view all the answers

    Which type of muscle is NOT formed from the parietal layer of the lateral plate mesoderm?

    <p>Muscles of the back (D)</p> Signup and view all the answers

    What is the term for a condition where a baby is born with abnormally short extremities, but where all segments of the limb are present?

    <p>Micromelia (D)</p> Signup and view all the answers

    During gastrulation, the bilaminar disc is converted into a trilaminar disc consisting of which layers?

    <p>Ectoderm, mesoderm, and endoderm (A)</p> Signup and view all the answers

    Which of the following initiates the process of gastrulation?

    <p>Formation of the primitive streak (A)</p> Signup and view all the answers

    What is the role of FGF8 in the formation of the primitive streak?

    <p>It controls the cell migration, invagination and specification in the primitive streak. (C)</p> Signup and view all the answers

    Which of the following structures is a cranial end of the primitive streak?

    <p>Primitive node (B)</p> Signup and view all the answers

    What are the primary roles of the primitive streak?

    <p>Determining the site of gastrulation, initiating germ layer formation, and defining major body axes (B)</p> Signup and view all the answers

    What is the normal fate of the primitive streak?

    <p>It gradually diminishes in size and typically disappears by the fourth week. (B)</p> Signup and view all the answers

    What is the cause of sacrococcygeal teratomas?

    <p>Remnants of the primitive streak that persist in the sacrococcygeal region. (D)</p> Signup and view all the answers

    Sacrococcygeal teratomas are most commonly composed of which type of tissues?

    <p>Tissues derived from all three germ layers. (C)</p> Signup and view all the answers

    Flashcards

    Klinefelter Syndrome

    A genetic condition resulting in an extra copy of the X chromosome in males, usually diagnosed in adulthood. It's associated with sterility, testicular atrophy, longer limbs, and gynecomastia.

    Triple X Syndrome

    A genetic condition affecting females due to an extra X chromosome. Most women remain asymptomatic or experience mild symptoms, including menstrual irregularities and some mental retardation.

    Turner Syndrome

    The only monosomy compatible with life, affecting females with a missing X chromosome. It is characterized by the absence of ovaries, short stature, webbed neck, and lymphedema.

    Trisomy

    A situation where a chromosome is present in an extra copy.

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    Monosomy

    A situation where a chromosome is missing.

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    Numerical Chromosomal Abnormalities

    A condition caused by abnormalities in the number of chromosomes.

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    Trisomy of Autosomes

    Down syndrome, Edwards syndrome, and Patau syndrome are examples of this. They happen due to an extra copy of an autosome.

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    Trisomy of Sex Chromosomes

    Klinefelter syndrome and Triple X syndrome are examples of this. They happen due to an extra copy of a sex chromosome.

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    Oocyte Maturation Inhibitor (OMI)

    A small peptide secreted by follicular cells that stops oocyte maturation during childhood. This ensures that most oocytes remain in a resting state until puberty.

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    Oogenesis

    The process by which oocytes (eggs) mature, beginning at puberty. This involves the development of follicles and the eventual release of a mature egg.

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    Antral Stage

    The stage of oocyte development where fluid accumulates within follicles, preceding ovulation.

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    Mature Vesicular Follicle (Graafian Follicle)

    A swollen follicle just before ovulation, ready to release an egg.

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    Luteinizing Hormone (LH)

    The hormone responsible for triggering ovulation, leading to the release of a mature egg from the ovary.

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    Meiosis II

    The process of dividing the egg cell (oocyte) to prepare it for fertilization. Meiosis II is completed only if the egg is fertilized.

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    Definitive Oocyte

    A mature egg cell containing 23 chromosomes, resulting from oogenesis and ready for fertilization.

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    Zygote Formation

    The union of the male and female pronuclei, resulting in a single cell called a zygote, containing 46 chromosomes.

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    Amnioblasts

    Cells that are adjacent to the cytotrophoblast and contribute to the formation of the amnion, a membrane that surrounds the developing embryo.

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    Hypoblast

    A layer of cells that lines the blastocyst cavity and forms the primary yolk sac. It contributes to the development of the umbilical cord and other structures.

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    Bilaminar Disc

    A flat disk formed by the epiblast and hypoblast layers. It is the foundation of the embryo.

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    Human Chorionic Gonadotropin (hCG)

    A glycoprotein hormone produced by the syncytiotrophoblast, the outer layer of the trophoblast. It plays a crucial role in maintaining pregnancy by stimulating progesterone production.

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    Hydatidiform Mole

    A condition characterized by the abnormal growth of the chorionic villi, the tiny projections that develop into the placenta. It is often associated with high levels of hCG and the absence of a fetus.

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    Gestational Trophoblastic Neoplasia (Choriocarcinoma)

    A malignant tumor of the trophoblast, the outer layer of the blastocyst that forms the placenta. It can develop after a normal pregnancy, ectopic pregnancy, or hydatidiform mole.

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    Oncofetal Antigens

    Cell surface antigens that are normally present during fetal development but are also found in malignant cells. They are used as tumor markers for diagnosis and treatment prognosis.

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    Alpha-fetoprotein

    A tumor marker used for diagnosis and prognosis of hepatocellular carcinoma and some germ cell tumors.

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    Gastrulation

    The process of transforming the bilaminar embryonic disc (made of epiblast and hypoblast) into a trilaminar disc consisting of ectoderm, mesoderm, and endoderm. It starts with the formation of the primitive streak, which is a linear band of thickened epiblast.

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    Primitive Streak

    A linear band of thickened epiblast that forms during gastrulation. It serves as the origin point for cell migration and differentiation, leading to the formation of the three germ layers.

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    Primitive Groove

    A groove that appears in the primitive streak during gastrulation. It is involved in the invagination of cells from the epiblast, giving rise to the mesoderm and endoderm.

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    Primitive Node

    The most cranial (head-end) part of the primitive streak. It plays a crucial role in establishing the anterior-posterior axis of the embryo.

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    Ectoderm

    The outermost layer of the trilaminar embryonic disc. It goes on to form the skin, nervous system, and sensory organs.

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    Mesoderm

    The middle layer of the trilaminar embryonic disc. It gives rise to muscles, bones, blood, and connective tissues.

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    Endoderm

    The innermost layer of the trilaminar embryonic disc. It differentiates into the lining of the digestive tract, respiratory system, and other internal organs.

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    Sacrococcygeal Teratoma

    A type of tumor that arises from remnants of the primitive streak in the sacrococcygeal region. It often contains tissues derived from all three germ layers.

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    Twin Transfusion Syndrome

    A condition that occurs in identical twins that share a placenta, where blood vessels within the placenta connect and allow blood to transfer from one twin to the other. This can lead to one twin receiving more blood than the other.

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    Striated Skeletal Muscles

    Muscles of the body that are attached to the skeleton and allow voluntary movement.

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    Developmental origin of muscles

    The process by which skeletal muscles develop from the myotomes of somites during embryonic development.

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    Amelia

    A severe congenital defect characterized by the complete absence of one or more limbs.

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    Meromelia

    A congenital limb defect where a limb is partially absent.

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    Micromelia

    A congenital limb defect where all limb segments are present but abnormally short.

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    Syndactyly

    A congenital limb defect where fingers or toes are fused together.

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    Polydactyly

    A congenital limb defect characterized by the presence of one or more extra fingers or toes.

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    Chorion frondosum

    The portion of the chorion that forms the placenta. It's the functional unit of the placenta, responsible for nutrient and gas exchange between the fetus and mother.

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    Dizygotic Twins

    Twins that develop from two separate eggs fertilized by two different sperm. They have different genetic makeup and may or may not be of the same sex.

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    Monozygotic Twins

    Twins that develop from a single fertilized egg that splits at a later stage. They share identical genetic material.

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    Splitting of zygote at the two-cell stage

    The splitting of a zygote into two embryos at the two-cell stage. It's a less common type of monozygotic twin development.

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    Splitting of zygote at early blastocyst stage

    The splitting of a zygote into two embryos at the early blastocyst stage. This is the most common type of monozygotic twin development.

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    Splitting of zygote at bilaminar germ disc stage

    The splitting of a zygote into two embryos at the bilaminar germ disc stage. This results in incomplete separation and sharing of some structures.

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    Vanishing Twins

    The disappearance of one twin during the first trimester. Often, the dying fetus is absorbed or becomes a flattened, mummified structure known as a fetus papyraceus.

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    Study Notes

    Review Block-1 Lectures, Fall Semester 2024

    • Lectures were given by Dr. Ismail Memon, MBBS, PhD, Saba University School of Medicine.
    • The Fall 2024 semester is referenced.

    Important Syndromes Due to Numerical Chromosomal Abnormalities

    • Trisomy of Autosomes:
      • Trisomy 21 (Down syndrome)
      • Trisomy 18 (Edwards syndrome)
      • Trisomy 13 (Patau syndrome)
    • Trisomy of Sex Chromosomes:
      • Klinefelter syndrome (47, XXY)
      • Triple X syndrome (47, XXX)
    • Monosomy:
      • Turner syndrome (45, XO)

    Klinefelter Syndrome

    • A genetic condition affecting males.
    • Characterized by an extra X chromosome.
    • Often diagnosed in adulthood.
    • Individuals have 47 chromosomes with an XXY sex chromosome complement.
    • Clinical features:
      • Sterility
      • Testicular atrophy
      • Hyalinization of seminiferous tubules
      • Taller stature
      • Long limbs
      • Gynecomastia
      • Fewer chest hairs

    Triple X Syndrome

    • Occurs due to an extra X chromosome (47, XXX).
    • Affects approximately 1 in 1,000 females.
    • Many individuals do not experience noticeable symptoms.
    • Some symptoms:
      • Mild symptoms
      • Infantile characteristics
      • Scanty menses
      • Some degree of mental retardation

    Turner Syndrome

    • The only monosomy compatible with life.
    • Characterized by a 45, X karyotype.
    • 98% of affected fetuses are spontaneously aborted.
    • Surviving individuals:
      • Are typically female in appearance
      • Exhibit short stature
      • Lack ovaries

    Cri-du-chat Syndrome

    • Caused by a partial deletion of the short arm of chromosome 5.
    • Affected children manifest:
      • A distinctive cat-like cry
      • Microcephaly
      • Mental retardation
      • Congenital heart disease

    Microdeletion Syndrome

    • Maternal Chromosome 15:
      • Characterized by Angelman syndrome.
    • Paternal Chromosome 15:
      • Characterized by Prader-Willi syndrome.
    • Angelman syndrome:
      • Mental retardation
      • Inability to speak
      • Poor motor skills
      • Unprovoked laughter
    • Prader-Willi syndrome:
      • Hypotonia
      • Obesity
      • Mental retardation

    Fragile X Syndrome

    • Caused by a mutation in the FMR1 gene (fragile X mental retardation 1).
    • The gene typically produces a protein needed for proper brain development.
    • Mutations result in:
      • Reduced or absent protein production
    • Characteristics:
      • Mental retardation
      • Large ears
      • Prominent jaw
      • Pale blue irises
    • Males are more severely affected due to a single X chromosome.

    Primordial Germ Cells (PGCs)

    • Precursors of sperm and eggs.
    • Responsible for creating new generations.
    • Develop into male or female germ cells.

    Gametogenesis

    • Process of gamete formation.
    • Sperm fertilizes the ovum to form a zygote in the fallopian tube.
    • Zygote becomes a blastocyst.
    • Blastocyst implants in the endometrium.
    • Inner cell mass divides to form a disc of two layers (epiblast and hypoblast).
    • The upper layer is called the epiblast, and the lower layer is called the hypoblast.
    • Embryonic development continues.

    Oogenesis

    • Process of egg cell development.
    • Egg cell maturation begins before birth.
    • Primordial germ cells (PGCs) become oogonia in the ovaries.
    • Oogonia undergo mitotic divisions.
    • Most oocyte development is arrested in prophase I until puberty.
    • Surviving oocytes enter meiosis I.
    • Meiosis I completes; a secondary oocyte and a polar body form.
    • If the egg is fertilized, meiosis II is completed.

    Ovulation

    • A regular monthly cycle in females.
    • Controlled by the hypothalamic hormone GnRH, which triggers the release of FSH and LH from the anterior pituitary gland.
    • Initiates the growth of primary-stage follicles under FSH stimulation.

    Zygote Formation

    • Definitive oocyte contains the female pronucleus (23 chromosomes).
    • Sperm's nucleus forms the male pronucleus.
    • Male and female pronuclei unite, restoring the diploid chromosome number.

    Cleavage and Blastocyst Formation

    • Zygote repeatedly divides into two cells at first.
    • The zygote divides successively forming a morula which consists of 16 cells.
    • The morula differentiates into an outer cell mass and an inner cell mass.
    • Cavities form between the cells, then this forms a blastocyst.
    • The blastocyst will enter the uterine cavity.
    • The zona pellucida is dissolved by enzymes.
    • The embryo hatches out.

    Blastocyst Formation

    • The embryonic pole and abembryonic pole form.
    • Inner cell mass and outer cell mass are formed.

    At the end of 1st Week

    • Embryo has inner and outer cell masses.
    • Inner cell mass forms the embryo proper.
    • Outer cell mass contributes to placenta formation.

    Further Development of Embryoblast

    • Epiblast cells next to the cytotrophoblast become amnioblasts.
    • Hypoblast cells migrate; they line the blastocyst cavity; they form exocoelomic membrane,
    • Blastocyst cavity becomes exocoelomic cavity/primary yolk sac.
    • Epiblast and hypoblast form a bilaminar disc.

    Week 2 Summary

    • Critical aspects of embryonic development in week 2.
    • Summary focused on events of week 2, with connections to subsequent phases

    Human Chorionic Gonadotropin (hCG)

    • Glycoprotein produced by syncytiotrophoblast.
    • Stimulates progesterone production by the corpus luteum.
    • Used to test for pregnancy (detects in maternal blood or urine, in early pregnancy).
    • Low hCG might suggest pregnancy complications.
    • High hCG might indicate multiple pregnancies, hydatidiform mole, or gestational trophoblastic neoplasia

    Gestational Trophoblastic Diseases

    • Hydatidiform mole:
      • Benign enlargement of chorionic villi.
      • Grape-like vesicles in the uterus.
      • Absence of embryo.
      • High hCG levels.
    • Gestational trophoblastic neoplasia (choriocarcinoma):
      • Malignant trophoblast tumor.
      • Can occur after normal or ectopic pregnancy, abortion, hydatidiform mole.
      • Can metastasize (spread) to the liver.

    Oncofetal Antigens

    • Cell surface proteins present during fetal development.
    • Can reappear in malignant cells as tumor markers.
    • Examples include alpha-fetoprotein (associated with hepatocellular carcinoma) and carcinoembryonic antigen (associated with colorectal cancer).

    Gastrulation, Formation of the Trilaminar Embryonic Disc

    • The bilaminar disc transforms into a trilaminar disc (consisting of ectoderm, mesoderm, and endoderm).
    • Gastrulation begins with the formation of the primitive streak in the epiblast.
    • Epiblast cells migrate to form endoderm and mesoderm as the primitive streak develops.

    Formation of Primitive Streak

    • The primitive streak appears as a thickened linear structure in the epiblast.
    • Controlled by FGF8, a growth factor.
    • Primitive streak and node develop, then a groove.
    • Groove formation marks the start of gastrulation.

    Functions of the Primitive Streak

    • Marks the site of gastrulation.
    • Initiates germ layer formation.
    • Defines major body axes.

    Fate of the Primitive Streak

    • Gradually reduces in size.
    • Becomes insignificant in the sacrococcygeal area.
    • Disappears completely at the end of the fourth week.

    Sacrococcygeal Teratomas

    • Tumours that arise from remnants of the primitive streak.
    • Composed of pluripotent cells from all three germ layers (ectoderm, mesoderm, endoderm).

    Birth Defects Associated with Laterality

    • Situs inversus: Internal organs are reversed in position (mirror image).

    Teratogenesis Associated with Gastrulation

    • Stage of development (especially the third week) where embryos are most vulnerable to teratogens.

    Neural tube formation, neurulation

    • Neural plate becomes neural folds, then the groove.
    • Neural folds fuse (start in the cervical region).
    • Neural tube opens to the amniotic cavity.

    Failure of the closing of Neural Neuropores

    • Cranial neuropore failure results in anencephaly.
    • Caudally (below cervical) failure results in spina bifida.

    Placenta

    • Temporary organ in pregnancy that connects the mother and the fetus.
    • Provides nutrients and oxygen to the growing embryo/fetus through the umbilical cord.
    • Parts of placenta:
      • Decidua basalis: Maternal component.
      • Chorion frondosum: Fetal component.
    • Chorionic villi develop into placenta.

    Maternal Part of Placenta – Decidua

    • Uterine endometrium after implantation.
    • Types of decidua:
      • Decidua basalis: Placental implantation site.
      • Decidua capsularis: Part of the decidua that forms between the growing embryo and the uterine wall.
      • Decidua parietalis: Remaining part of the decidua lining the uterine cavity.

    Fetal Part of Placenta - Chorion Frondosum

    • Chorionic villi are the functional unit of the placenta.
    • First, they sprout out all over the chorion.
    • Villi associated with the decidua capsularis undergo degeneration.
    • Chorion laeve is the smooth surface of the chorion.
    • Villi associated with the decidua basalis proliferate, forming the chorion frondosum, the part of chorion that forms placenta.

    Twinning

    • Dizygotic (fraternal) twins:
      • Result from the fertilization of two separate eggs by two different sperms.
      • Genetically different, with totally different genetic constitutions.
    • Monozygotic (identical) twins:
      • Result from the splitting of a single fertilized egg.
      • Genetically identical.

    Splitting of the Zygote may occur at Different Stages

    • Two-cell stage: Results in dizygotic twinning (separate placentas).
    • Early blastocyst stage: Results in two inner cell masses from the same blastocyst (1 placenta).
    • Bilaminar germ disc stage: Results in two embryos sharing one placenta, chorion, and amnion.

    Vanishing Twins

    • One twin often dies in the early stages.
    • Causes include issues affecting the development of the embryo.

    Twin Transfusion Syndrome

    • Usually in monozygotic twins who share the same placenta.
    • Blood vessels (anastomoses) from the placental circulations of the two fetuses connect, and unequal blood flow occurs between them.

    Striated Skeletal Muscle

    • Some cells from the VLL region (Lateral Plate Mesoderm) migrate to form infrahyoid, some abdominal wall muscles, and some limb muscles.
    • Myotome cells differentiate into some back, shoulder girdle, and internal costal muscles.

    Developmental Origin of Muscles

    • A table showing the origin of muscles.

    Limb Defects

    • Amelia: Complete absence of one or more limbs.
    • Meromelia: Partial absence of one or more limbs.
    • Micromelia: Shortening of the limbs.
    • Brachydactyly: Shortened digits.
    • Syndactyly: Fused fingers or toes.
    • Cleft hand/foot: Abnormal cleft/separation between bones.
    • Arthrogryposis: Congenital joint contractures.
    • Amniotic bands: Bands constricting and/or amputating parts of limbs.
    • Descriptions and explanations of the different conditions.

    Polydactyly

    • Extra fingers or toes.
    • Due to abnormal duplication of the zone of polarizing activity (ZPA).

    Preeclampsia

    • Leading cause of maternal mortality.
    • Characterized by high blood pressure and protein in urine (proteinuria).
    • Associated with reduced organ perfusion and occurs (usually) in the second half of pregnancy.
    • Can lead to various complications such as fetal growth retardation, or the death of the mother.

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