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Article

Exploring inheritance, and clinical penetrance of distal Xq28 duplication syndrome: insights from 47 new unpublished cases.

Journal of human genetics - 1 Jul 2024

Levy Michal, Elron Eyal, Shohat Mordechai, Lifshitz Shira, Kahana Sarit, Shani Hagit, Grossman Anat, Amar Shirly, Narkis Ginat, Sagi-Dain Lena, Basel-Salmon Lina, Maya Idit

Abstract excerpt

BACKGROUND: Distal Xq28 duplication, or int22h1/int22h2-mediated Xq28 duplication syndrome, leads to cognitive impairment, neurobehavioral issues, and facial dysmorphisms. Existing literature has limited information on clinical traits and penetrance. METHODS: We identified cases of distal Xq28 duplication (chrX: 154,126,575-154,709,680, GRCh37/hg19) through a review of clinical records and microarray reports from...

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PMID: 38632380
DOI: 10.1038/s10038-024-01252-7
PMCID: PMC11199134

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