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Article

Familial X/Y Translocation Encompassing ARSE in Two Moroccan Siblings with Sensorineural Deafness.

Cytogenetic and genome research - 1 Jan 2017

Amasdl Saadia, Smaili Wiam, Natiq Abdelhafid, Hassani Amale, Sbiti Aziza, Agadr Aomar, Sanlaville Damien, Sefiani Abdelaziz

Abstract excerpt

Unbalanced translocations involving X and Y chromosomes are rare and associated with a contiguous gene syndrome. The clinical phenotype is heterogeneous including mainly short stature, chondrodysplasia punctata, ichthyosis, hypogonadism, and intellectual disability. Here, we report 2 brothers with peculiar gestalt, short stature, and hearing loss, who harbor an X/Y translocation. Physical examination, brainstem...

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Identifiers

PMID: 29248929
DOI: 10.1159/000485071

Genes

SHOX

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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