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Article

A case report of two brothers with ATR-X syndrome due to low maternal frequency of somatic mosaicism for an intragenic deletion in the ATRX.

Journal of human genetics - 1 Jul 2014

Shimbo Hiroko, Ninomiya Shinsuke, Kurosawa Kenji, Wada Takahito

Abstract excerpt

In clinical practice, it is important to diagnose the carrier state of female patients with X-linked diseases for genetic counseling to calculate the recurrent risk of offspring. Because some X-linked diseases show high rates of gonadal mosaicism, this diagnosis is sometimes difficult, when there are few offspring in a family and no mutation is detected in the maternal genomic DNA. Here, we report two male...

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Source

Identifiers

PMID: 24898829
DOI: 10.1038/jhg.2014.45

Genes

ATRX
ATR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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A case report of two brothers with ATR-X syndrome due to low maternal frequency of somatic mosaicism for an intragenic deletion in the ATRX.PMID 24898829Read ↗

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