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Related Concept Videos

Nondisjunction01:29

Nondisjunction

During meiosis, chromosomes occasionally separate improperly. This occurs due to failure of homologous chromosome separation during meiosis I or failed sister chromatid separation during meiosis II. In some species, notably plants, nondisjunction can result in an organism with an entire additional set of chromosomes, which is called polyploidy. In humans, nondisjunction can occur during male or female gametogenesis and the resulting gametes possess one too many or one too few chromosomes.
Nondisjunction01:21

Nondisjunction

Nondisjunction is the failure of homologous chromosomes or sister chromatids to separate correctly and move to the opposite poles of the cells. This produces daughter cells with abnormal chromosome numbers.  Nondisjunction is common during anaphase I or anaphase II of meiosis.  Mutations in synaptonemal complex proteins that attach homologous chromosomes increase the chances of nondisjunction in anaphase I of meiosis I. In contrast, mutations in topoisomerases and condensins that hold sister...
Nondisjunction01:29

Nondisjunction

During meiosis, chromosomes occasionally separate improperly. This occurs due to failure of homologous chromosome separation during meiosis I or failed sister chromatid separation during meiosis II. In some species, notably plants, nondisjunction can result in an organism with an entire additional set of chromosomes, which is called polyploidy. In humans, nondisjunction can occur during male or female gametogenesis and the resulting gametes possess one too many or one too few chromosomes.
Genomic Imprinting and Inheritance02:30

Genomic Imprinting and Inheritance

Diploid organisms inherit genetic material through chromosomes from both parents. Copies of the same gene are known as alleles. In most cases, both alleles are simultaneously expressed and allow various cellular processes to function optimally. If one of the alleles is missing or mutated, the expression of the other allele can compensate; however, this is not true for all genes.
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
Karyotyping01:17

Karyotyping

Describing the number and physical features of chromosomes can reveal abnormalities that underlie genetic diseases. This description is facilitated by special staining techniques that produce a particular banding pattern on each chromosome. State-of-the-art techniques make this approach even more powerful, enabling the detection of individual genes that cause disease.A Simple Chromosome Staining Technique Provides Valuable Scientific InsightSome genetic diseases can be detected by looking at...
Karyotyping01:17

Karyotyping

Describing the number and physical features of chromosomes can reveal abnormalities that underlie genetic diseases. This description is facilitated by special staining techniques that produce a particular banding pattern on each chromosome. State-of-the-art techniques make this approach even more powerful, enabling the detection of individual genes that cause disease.A Simple Chromosome Staining Technique Provides Valuable Scientific InsightSome genetic diseases can be detected by looking at...

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Molecular genetic characterization of a prenatally detected 1.484-Mb Xq13.3-q21.1 duplication encompassing ATRX and a literature review of syndromic intellectual disability and congenital abnormalities in males with a duplication at Xq13.3-q21.1.

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Chromosomal abnormalities associated with omphalocele.

Chih-Ping Chen1

  • 1Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan. cpc_mmh@yahoo.com

Taiwanese Journal of Obstetrics & Gynecology
|March 29, 2007
PubMed
Summary

Omphalocele in fetuses significantly increases the risk of chromosomal abnormalities, including full and partial aneuploidies and uniparental disomy. Early detection warrants genetic investigation and counseling.

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Area of Science:

  • Medical Genetics
  • Prenatal Diagnosis
  • Developmental Biology

Background:

  • Omphalocele is a congenital anomaly associated with a higher incidence of chromosomal abnormalities.
  • Genetic factors are implicated in the etiology of omphalocele.
  • Risk factors include maternal age, gestational age at diagnosis, and associated anomalies.

Purpose of the Study:

  • To provide an overview of chromosomal abnormalities linked to omphalocele.
  • To comprehensively review various types of aneuploidies and uniparental disomy associated with omphalocele.
  • To emphasize omphalocele as a marker for genetic conditions.

Main Methods:

  • Literature review of chromosomal abnormalities in fetuses with omphalocele.
  • Categorization of abnormalities into full aneuploidy, partial aneuploidy, and uniparental disomy.
  • Synthesis of evidence on genetic contributions to omphalocele.

Main Results:

  • Omphalocele is frequently associated with full aneuploidies (e.g., Trisomy 18, Trisomy 13, Trisomy 21, Turner syndrome, Klinefelter syndrome, Triple X syndrome).
  • Partial aneuploidies (e.g., dup(3q), del(17p13.3)) and uniparental disomy (e.g., UPD 11, UPD 14) are also observed.
  • Specific syndromes like Pallister-Killian and Miller-Dieker lissencephaly syndrome are linked to omphalocele.

Conclusions:

  • Omphalocele serves as a significant marker for underlying chromosomal abnormalities.
  • Perinatal diagnosis of omphalocele necessitates prompt cytogenetic evaluation.
  • Genetic counseling is crucial for families with fetuses diagnosed with omphalocele and associated genetic conditions.