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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...
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.
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.
Karyotyping01:17

Karyotyping

Overview
Karyotyping01:17

Karyotyping

Overview

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Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform
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Partial monosomy 7q.

Rajitha Ponnala1, Ashwin Dalal

  • 1Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Nampally, Hyderabad, Andhra Pradesh 500 001, India.

Indian Pediatrics
|June 10, 2011
PubMed
Summary

This study details a rare genetic condition, partial monosomy 7q and partial trisomy 14q, in a young boy. The findings highlight similarities to previously documented 7q deletion cases.

Area of Science:

  • Human Genetics
  • Clinical Cytogenetics
  • Pediatric Genetics

Background:

  • Chromosomal abnormalities can lead to complex congenital disorders.
  • Understanding unbalanced rearrangements is crucial for diagnosing genetic syndromes.
  • Partial monosomy 7q and partial trisomy 14q represent rare chromosomal events.

Observation:

  • A 4-year-old male presented with microcephaly, prominent eyes, arched eyebrows, malformed ears, and overlapping toes.
  • Clinical examination revealed distinct dysmorphic features.
  • The patient's phenotype suggested an underlying genetic cause.

Findings:

  • Karyotyping revealed an unbalanced chromosomal rearrangement.
  • The specific abnormality identified was partial monosomy 7q (7q33-->qter) and partial trisomy 14q (14q32.2-->qter).

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  • The observed clinical features were consistent with previously reported cases of 7q deletion syndrome.

    • Implications:

    • This case expands the understanding of genotype-phenotype correlations in chromosomal disorders.
    • Accurate genetic diagnosis is essential for appropriate clinical management and genetic counseling.
    • Further research into similar unbalanced rearrangements may reveal novel genetic syndromes.