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Article

A cryptic duplication 22q13.31 to qter leads to a distinct phenotype with mental retardation, microcephaly and mild facial dysmorphism.

Genetic counseling (Geneva, Switzerland) - 1 Jan 2008

Peeters H, Vermeesch J, Fryns J P

Abstract excerpt

We present a girl with a terminal 22q duplication due to an unbalanced chromosomal translocation: 46, XX, der(22)(qter --> q13.31::p11 --> qter). She presented with mild to moderate mental retardation, autism spectrum disorder, microcephaly and mild dysmorphic facial features. Because of nasal speech and mental retardation, FISH analysis for the DiGeorge/VCFS region was performed. In this analysis, an extra...

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PMID: 19239079

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ARSA

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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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