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Article

Familial short stature due to a 5q22.1-q23.2 duplication refines the 5q duplication spectrum.

European journal of medical genetics - 1 Jan 2000

Zahnleiter Diana, Trautmann Udo, Ekici Arif B, Goehring Ina, Reis André, Dörr Helmuth-Günther, Rauch Anita, Thiel Christian T

Abstract excerpt

We identified a maternally inherited 14.2Mb duplication 5q22.1-q23.2 in two female siblings and their mother by molecular karyotyping. Both siblings were small for gestational age and presented with pronounced postnatal growth retardation, mild motor delay, congenital heart disease in one of the siblings, and distinct facial dysmorphism. As this duplication is one of the smallest reported 5q duplications, short...

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Identifiers

PMID: 21777705
DOI: 10.1016/j.ejmg.2011.06.007

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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