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Questions and Answers
Which chromosomal abnormality results in Klinefelter syndrome?
Which chromosomal abnormality results in Klinefelter syndrome?
A male patient presents with sterility, testicular atrophy, and gynecomastia. Which chromosomal abnormality is most likely?
A male patient presents with sterility, testicular atrophy, and gynecomastia. Which chromosomal abnormality is most likely?
What is the typical karyotype associated with Triple X syndrome?
What is the typical karyotype associated with Triple X syndrome?
A female patient is diagnosed with Triple X syndrome. Which of the following is a typical feature of this conditon?
A female patient is diagnosed with Triple X syndrome. Which of the following is a typical feature of this conditon?
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Which condition is characterized by the 45, X karyotype?
Which condition is characterized by the 45, X karyotype?
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What is a key characteristic physical feature of Turner syndrome?
What is a key characteristic physical feature of Turner syndrome?
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Which of the following numerical chromosomal abnormalities is considered a trisomy of an autosome?
Which of the following numerical chromosomal abnormalities is considered a trisomy of an autosome?
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What percentage of fetuses with Turner syndrome are spontaneously aborted?
What percentage of fetuses with Turner syndrome are spontaneously aborted?
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Which cells are directly adjacent to the cytotrophoblast in the developing embryo?
Which cells are directly adjacent to the cytotrophoblast in the developing embryo?
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What is the primary function of the exocoelomic membrane?
What is the primary function of the exocoelomic membrane?
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What two cell layers compose the bilaminar disc?
What two cell layers compose the bilaminar disc?
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Which of the following is a glycoprotein produced by the syncytiotrophoblast?
Which of the following is a glycoprotein produced by the syncytiotrophoblast?
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What is the primary role of hCG during pregnancy?
What is the primary role of hCG during pregnancy?
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A low level of hCG in maternal blood may indicate:
A low level of hCG in maternal blood may indicate:
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What characterizes a hydatidiform mole?
What characterizes a hydatidiform mole?
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Which of these is an example of an oncofetal antigen?
Which of these is an example of an oncofetal antigen?
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What is the role of Oocyte Maturation Inhibitor (OMI)?
What is the role of Oocyte Maturation Inhibitor (OMI)?
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Approximately how many oocytes are present at the beginning of puberty?
Approximately how many oocytes are present at the beginning of puberty?
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What triggers the monthly maturation of follicles at puberty?
What triggers the monthly maturation of follicles at puberty?
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What is the term for the swollen follicle immediately prior to ovulation?
What is the term for the swollen follicle immediately prior to ovulation?
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Which of the following best describes the timing of the mature vesicular stage in the ovarian cycle?
Which of the following best describes the timing of the mature vesicular stage in the ovarian cycle?
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During which phase of meiosis is the oocyte arrested before ovulation?
During which phase of meiosis is the oocyte arrested before ovulation?
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What is the outcome of oogenesis after meiosis II is complete?
What is the outcome of oogenesis after meiosis II is complete?
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What best describes the contents of the pronuclei in the zygote immediately after fertilization?
What best describes the contents of the pronuclei in the zygote immediately after fertilization?
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What is the functional unit of the placenta called?
What is the functional unit of the placenta called?
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Which part of the chorion proliferates to form the placenta?
Which part of the chorion proliferates to form the placenta?
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What is the result of fertilization of two different secondary oocytes by two different sperms?
What is the result of fertilization of two different secondary oocytes by two different sperms?
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Which of the following is NOT a characteristic of dizygotic twins?
Which of the following is NOT a characteristic of dizygotic twins?
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Monozygotic twins result from the fertilization of:
Monozygotic twins result from the fertilization of:
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If a zygote splits at the two-cell stage, what is the most likely outcome regarding placentas, chorionic sacs, and amniotic sacs?
If a zygote splits at the two-cell stage, what is the most likely outcome regarding placentas, chorionic sacs, and amniotic sacs?
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What is the term for a twin that dies in the first trimester and becomes compressed?
What is the term for a twin that dies in the first trimester and becomes compressed?
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Which of the following can cause a vanishing twin?
Which of the following can cause a vanishing twin?
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Twin transfusion syndrome typically occurs in which type of twins?
Twin transfusion syndrome typically occurs in which type of twins?
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Which of the following muscle groups are derived from the primaxial (epaxial) portion of the myotome?
Which of the following muscle groups are derived from the primaxial (epaxial) portion of the myotome?
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What term describes the complete absence of one or more extremities?
What term describes the complete absence of one or more extremities?
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Which of the following best describes the cause of polydactyly?
Which of the following best describes the cause of polydactyly?
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In a cleft hand and foot, which of the following is typically absent?
In a cleft hand and foot, which of the following is typically absent?
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What is the defining characteristic of arthrogryposis?
What is the defining characteristic of arthrogryposis?
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Which type of muscle is NOT formed from the parietal layer of the lateral plate mesoderm?
Which type of muscle is NOT formed from the parietal layer of the lateral plate mesoderm?
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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?
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?
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During gastrulation, the bilaminar disc is converted into a trilaminar disc consisting of which layers?
During gastrulation, the bilaminar disc is converted into a trilaminar disc consisting of which layers?
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Which of the following initiates the process of gastrulation?
Which of the following initiates the process of gastrulation?
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What is the role of FGF8 in the formation of the primitive streak?
What is the role of FGF8 in the formation of the primitive streak?
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Which of the following structures is a cranial end of the primitive streak?
Which of the following structures is a cranial end of the primitive streak?
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What are the primary roles of the primitive streak?
What are the primary roles of the primitive streak?
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What is the normal fate of the primitive streak?
What is the normal fate of the primitive streak?
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What is the cause of sacrococcygeal teratomas?
What is the cause of sacrococcygeal teratomas?
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Sacrococcygeal teratomas are most commonly composed of which type of tissues?
Sacrococcygeal teratomas are most commonly composed of which type of tissues?
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Flashcards
Klinefelter Syndrome
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
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
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
Trisomy
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Monosomy
Monosomy
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Numerical Chromosomal Abnormalities
Numerical Chromosomal Abnormalities
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Trisomy of Autosomes
Trisomy of Autosomes
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Trisomy of Sex Chromosomes
Trisomy of Sex Chromosomes
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Oocyte Maturation Inhibitor (OMI)
Oocyte Maturation Inhibitor (OMI)
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Oogenesis
Oogenesis
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Antral Stage
Antral Stage
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Mature Vesicular Follicle (Graafian Follicle)
Mature Vesicular Follicle (Graafian Follicle)
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Luteinizing Hormone (LH)
Luteinizing Hormone (LH)
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Meiosis II
Meiosis II
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Definitive Oocyte
Definitive Oocyte
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Zygote Formation
Zygote Formation
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Amnioblasts
Amnioblasts
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Hypoblast
Hypoblast
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Bilaminar Disc
Bilaminar Disc
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Human Chorionic Gonadotropin (hCG)
Human Chorionic Gonadotropin (hCG)
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Hydatidiform Mole
Hydatidiform Mole
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Gestational Trophoblastic Neoplasia (Choriocarcinoma)
Gestational Trophoblastic Neoplasia (Choriocarcinoma)
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Oncofetal Antigens
Oncofetal Antigens
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Alpha-fetoprotein
Alpha-fetoprotein
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Gastrulation
Gastrulation
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Primitive Streak
Primitive Streak
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Primitive Groove
Primitive Groove
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Primitive Node
Primitive Node
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Ectoderm
Ectoderm
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Mesoderm
Mesoderm
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Endoderm
Endoderm
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Sacrococcygeal Teratoma
Sacrococcygeal Teratoma
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Twin Transfusion Syndrome
Twin Transfusion Syndrome
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Striated Skeletal Muscles
Striated Skeletal Muscles
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Developmental origin of muscles
Developmental origin of muscles
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Amelia
Amelia
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Meromelia
Meromelia
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Micromelia
Micromelia
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Syndactyly
Syndactyly
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Polydactyly
Polydactyly
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Chorion frondosum
Chorion frondosum
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Dizygotic Twins
Dizygotic Twins
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Monozygotic Twins
Monozygotic Twins
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Splitting of zygote at the two-cell stage
Splitting of zygote at the two-cell stage
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Splitting of zygote at early blastocyst stage
Splitting of zygote at early blastocyst stage
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Splitting of zygote at bilaminar germ disc stage
Splitting of zygote at bilaminar germ disc stage
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Vanishing Twins
Vanishing Twins
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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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Description
Test your knowledge on chromosomal abnormalities and related syndromes like Klinefelter and Turner syndrome. This quiz covers key features, karyotypes, and cellular functions associated with these conditions. Enhance your understanding of genetics with these essential questions.