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Article

Xp22.3; Yq11.2 chromosome translocation and its clinical manifestations.

Annales de genetique - 1 Jan 2000

Frints S G, Fryns J, Lagae L, Syrrou M, Marynen P, Devriendt K

Abstract excerpt

We report clinical and molecular investigations in a boy with karyotype 46,Y,der(X)t(X;Y)(qter-->p22.3::q11.21-->qter) and his mother with karyotype 46,X,der(X)t(X;Y)(qter-->p22.3::q11.21-->qter). Haplo-insufficiency for the Xp22.3-->pter chromosomal region in the boy resulted in postnatal growth retardation, developmental delay, partial ichthyosis and facial dysmorphism, but normal external genitals. His mother...

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PMID: 11522244
DOI: 10.1016/s0003-3995(01)01071-1

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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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