Genetics and Inheritance

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16 Questions

  • Craniofacial anomalies and syndromes are passed down due to defects in the ______.

genome

What are clefts?

Abnormal openings or fissures in anatomical structures.

  • Recurrence of syndromes is variable and depends on the interaction of ______ and environmental factors.

genotype

What causes clefts?

Usually multifactorial, including genetic and environmental factors such as teratogens, drugs, viruses, and maternal nutritional deficiencies.

  • DNA is located within the ______ of each cell and forms long polymers composed of purine and pyrimidine pairs.

chromosomes

What is the most common congenital defect of the face?

Cleft lip/palate

  • Specific genes are labeled by the chromosome number, arm, and band number to indicate their ______.

location

What is the recurrence risk for nonsyndromic cleft lip with/without cleft palate for parents and child?

3% to 5%

  • Chromosomes consist of 23 pairs, including 22 pairs of autosomes and one pair of ______ chromosomes.

sex

What is the difference in occurrence between cleft lip and cleft palate?

Cleft lip occurs twice as often in males, while cleft palate occurs twice as often in females.

  • Trisomy is caused by gaining one extra copy of a chromosome, for a total of ______ chromosomes.

three

What is the treatment for clefts?

A multidisciplinary approach, including surgery, speech therapy, and dental and orthodontic care.

What is a submucous cleft?

When the oral surface of the secondary palate is completely formed while the nasal surface or uvula is incomplete, and can affect muscle function and cause velopharyngeal insufficiency.

  • Autosomal recessive traits manifest only when both copies of a gene are present, and autosomal dominant traits manifest when only one ______ of the gene is present.

allele

  • X-linked inheritance disorders are caused by genes on the X chromosome and affect mostly ______.

males

What is the fourth most common birth defect?

Cleft lip/palate

Study Notes

Genetics and Patterns of Inheritance

  • Craniofacial anomalies and syndromes are passed down due to defects in the genome.
  • Recurrence of syndromes is variable and depends on the interaction of genotype and environmental factors.
  • A cell contains organelles, a nucleus, and genetic instructions for cell and tissue functions.
  • DNA is located within the chromosomes of each cell and forms long polymers composed of purine and pyrimidine pairs.
  • Specific genes are labeled by the chromosome number, arm, and band number to indicate their location.
  • Chromosomes consist of 23 pairs, including 22 pairs of autosomes and one pair of sex chromosomes.
  • Trisomy is caused by gaining one extra copy of a chromosome, for a total of three chromosomes.
  • Autosomal recessive traits manifest only when both copies of a gene are present, and autosomal dominant traits manifest when only one allele of the gene is present.
  • X-linked inheritance disorders are caused by genes on the X chromosome and affect mostly males.
  • Multifactorial inheritance occurs when disorders result from an interaction of multiple genes with environmental influences.

Non-Mendelian Inheritance

  • Multifactorial inheritance includes disorders resulting from an interaction of multiple genes with environmental influences.
  • Anticipation is a tendency in certain inherited disorders to have more severe manifestations or an earlier age of onset with succeeding generations.
  • Imprinting is the tendency for some genes to function differently, depending on whether they were inherited maternally or paternally.

Test your knowledge of genetics and inheritance patterns with our quizzes! Learn about the basics of DNA, chromosomes and genes, as well as the different types of inheritance, including autosomal dominant and recessive, X-linked, and multifactorial. You will also explore non-Mendelian inheritance patterns such as anticipation and imprinting. With our quizzes, you will gain a deeper understanding of genetics and how it affects human health.

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