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PMID: 10191430 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't

The phenotypic spectrum of the 10p deletion syndrome versus the classical DiGeorge syndrome.

Genetic counseling (Geneva, Switzerland) ·Vol. 10 ·No. 1 ·1999-00-00 ·Pages 59-65

Van Esch H, Groenen P, Fryns JP, Van de Ven W, Devriendt K

Abstract

We reviewed 36 patients with a deletion of the short arm of chromosome 10 and a partial DiGeorge syndrome. We compared the phenotypes observed in these del(10p) patients with the classical DiGeorge phenotype associated with del(22q11), pointing out both similarities and differences. Some features, such as sensorineural hearing loss, seem to be highly associated with a deletion of 10p but are absent in the classical DiGeorge spectrum caused by del(22q11).

MeSH Terms
Abnormalities, Multiple/diagnosis,genetics Adult Chromosome Deletion Chromosomes, Human, Pair 10 Chromosomes, Human, Pair 22 DiGeorge Syndrome/diagnosis,genetics Diagnosis, Differential Female Humans Infant Infant, Newborn Male Phenotype
Authors & Affiliations
5 authors, click to expand affiliations / ORCID
Van Esch H
Groenen P
Fryns J P
Van de Ven W
Devriendt K
Article Info
Journal
Genetic counseling (Geneva, Switzerland)
Abbr.
Genet Couns
ISSN
1015-8146
Published
1999-00-00
Pages
59-65
Language
English
Region
Switzerland
NLM ID
9015261
Subset
IM
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