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Related Concept Videos

Meiosis I01:49

Meiosis I

Meiosis is a carefully orchestrated set of cell divisions, the goal of which—in humans—is to produce haploid sperm or eggs, each containing half the number of chromosomes present in somatic cells elsewhere in the body. Meiosis I is the first such division, and involves several key steps, among them: condensation of replicated chromosomes in diploid cells; the pairing of homologous chromosomes and their exchange of information; and finally, the separation of homologous chromosomes by a...
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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...
Pleiotropy01:33

Pleiotropy

Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
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.

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Array Comparative Genomic Hybridization (Array CGH) for Detection of Genomic Copy Number Variants
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7q11.23 Microduplication: a recognizable phenotype.

A Dixit1, S McKee, S Mansour

  • 1Department of Clinical Genetics, Nottingham City Hospital, Nottingham, UK.

Clinical Genetics
|February 29, 2012
PubMed
Summary
This summary is machine-generated.

Williams-Beuren syndrome (WBS) is a microdeletion disorder. The reciprocal 7q11.23 microduplication in children presents a recognizable phenotype including speech delay and autistic features, with specific facial dysmorphisms.

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Area of Science:

  • Genetics
  • Developmental Biology
  • Clinical Medicine

Background:

  • Williams-Beuren syndrome (WBS) is a well-characterized microdeletion syndrome.
  • The reciprocal microduplication of the WBS critical region (7q11.23) has a less defined phenotype.
  • Understanding reciprocal copy-number variations is crucial for genetic diagnostics.

Observation:

  • Seven new patients and one parent with 7q11.23 microduplication were studied.
  • All patients exhibited speech delay, autistic features, and facial dysmorphism.
  • Clinical features were consistent with previously reported cases of 7q11.23 microduplication.

Findings:

  • The 7q11.23 microduplication syndrome is associated with a recognizable phenotype.
  • Specific dysmorphic features include straight eyebrows, thin lips, and a short philtrum.
  • These features, combined with developmental delays, aid in clinical recognition.

Implications:

  • Recognition of the 7q11.23 microduplication phenotype aids in earlier diagnosis.
  • Further research can refine genotype-phenotype correlations for this region.
  • Improved understanding supports genetic counseling and patient management.