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Related Concept Videos

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...
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.
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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...
Chromosome Duplication02:05

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The process of chromosome duplication during cell division requires genome-wide disruption and re-assembly of chromatin. The chromatin structure must be accurately inherited, reassembled, and maintained in the daughter cells to ensure lineage propagation.
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Nondisjunction01:29

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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

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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...

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Array Comparative Genomic Hybridization (Array CGH) for Detection of Genomic Copy Number Variants
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Published on: February 21, 2015

16p subtelomeric duplication: a clinically recognizable syndrome.

Maria Cristina Digilio1, Laura Bernardini, Anna Capalbo

  • 1Medical Genetics and Pediatric Cardiology, Bambino Gesù Hospital, Rome, Italy. digilio@opbg.net

European Journal of Human Genetics : EJHG
|March 19, 2009
PubMed
Summary

Two patients with 16p duplication (dup16p) exhibit distinct facial features and neurological issues. This genetic condition may increase susceptibility to pulmonary hypertension and other vascular anomalies.

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Area of Science:

  • Genetics
  • Human Molecular Genetics
  • Clinical Genetics

Background:

  • Subtelomeric chromosomal rearrangements are increasingly recognized as causes of developmental disorders.
  • Duplication of the terminal region of chromosome 16p (dup16p) has been associated with specific clinical features, but its full spectrum remains under investigation.

Observation:

  • Two patients presented with overlapping facial dysmorphisms, including high forehead, sparse eyebrows, blepharophimosis, short nose, everted upper lip, high-arched palate, wide-spaced teeth, and cupped anteverted ears.
  • Neurological impairment was noted in both patients.
  • One patient exhibited susceptibility to vascular anomalies, specifically pulmonary hypertension and portal cavernoma.

Findings:

  • Fluorescent in situ hybridization (FISH) and array-comparative genome hybridization (aCGH) confirmed de novo dup16p in both cases, with additional subtelomeric deletions on chromosomes 4q and 21q in one case each.
  • The duplicated regions on 16p were approximately 12 Mb and 8.5 Mb.
  • The findings suggest a clinically recognizable disorder associated with dup16p.

Implications:

  • The study highlights dup16p as a cause of a recognizable genetic disorder with distinct facial and neurological features.
  • The association with pulmonary hypertension and other vascular anomalies suggests a potential role for the 16p subtelomeric region in vascular development and disease.
  • Further research into the genetic underpinnings of vascular anomalies in dup16p is warranted.