Possible incomplete penetrance of Xq28 int22h-1/int22h-2 duplication.

doi:10.1111/cge.14525

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Article

Possible incomplete penetrance of Xq28 int22h-1/int22h-2 duplication.

Clinical genetics - 1 Sept 2024

Billes Alexis, Pujalte Mathilde, Jedraszak Guillaume, Amsallem Daniel, Boudry-Labis Elise, Boute Odile, Bouquillon Sonia, Brischoux-Boucher Elise, Callier Patrick, Coutton Charles, Denizet Anne-Laude Avice, Dieterich Klaus, Kuentz Paul, Lespinasse James, Mazel Benoît, Morin Gilles, Amram Florence, Pennamen Perrine, Rio Marlène, Piard Juliette, Putoux Audrey, Rama Mélanie, Roze-Guillaumey Virginie, Schluth-Bolard Caroline, Till Marianne, Trouvé Chloé, Vieville Gaëlle, Rooryck Caroline, Sanlaville Damien, Chatron Nicolas

Abstract excerpt

Xq28 int22h-1/int22h-2 duplication is the result of non-allelic homologous recombination between int22h-1/int22h-2 repeats separated by 0.5 Mb. It is responsible for a syndromic form of intellectual disability (ID), with recurrent infections and atopic diseases. Minor defects, nonspecific facial dysmorphic features, and overweight have also been described. Half of female carriers have been reported with ID,...

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PMID: 38561231
DOI: 10.1111/cge.14525

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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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