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Meiosis I

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...

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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,...

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Related Experiment Video

Updated: Jul 1, 2025

FISH for Pre-implantation Genetic Diagnosis

FISH for Pre-implantation Genetic Diagnosis

Published on: February 23, 2011

Intussusception in Mosaic Trisomy 14.

Jeremy Skvarce¹, Arjun Chatterjee¹, Giselle Velez²

¹Department of Internal Medicine, Cleveland Clinic Foundation, Cleveland, OH.

ACG Case Reports Journal

|March 6, 2024

Summary

This summary is machine-generated.

Mosaic trisomy 14 is a rare genetic condition. This case study highlights an adult patient with severe limitations, presenting with intussusception and chronic constipation, successfully managed conservatively.

Area of Science:

Genetics
Rare Diseases
Pediatrics

Background:

Mosaic trisomy 14 is an exceptionally rare chromosomal abnormality, first identified in the 1970s.

Keywords:

Trisomy 14 abdominal pain constipation intussusception

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Fewer than 100 liveborn individuals with this condition have been documented.

Limited data exists regarding the long-term complications and natural history, particularly in adult patients.