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Article

Fragile X syndrome and 22q11.2 microdeletion in the same sibship.

American journal of medical genetics - 11 Dec 2000

Missirian C, Moncla A, Voelckel M A, Ravix V, Philip N

Abstract excerpt

We present a family with an unusual association of two frequent genetic disorders, 22q11.2 microdeletion and fragile X syndrome, originating from the same parent. Our observation confirms the wide intrafamilial clinical variability of the 22q11.2 microdeletion and illustrates the difficulty of the clinical diagnosis for the fragile X syndrome in affected females.

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PMID: 11186890

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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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