Upper limb malformations in DiGeorge syndrome

Journal Article · Mon Mar 13 00:00:00 EST 1995 · American Journal of Medical Genetics

DOI:https://doi.org/10.1002/ajmg.1320560111· OSTI ID:99073

Cormier-Daire, V; Iserin, L; Sidi, D ^[1]

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1. and others

We report on upper limb anomalies in two children with a complete DiGeorge sequence: conotruncal defects, hypocalcemia, thymic aplasia, and facial anomalies. One child had preaxial polydactyly, and the other had club hands with hypoplastic first metacarpal. In both patients, molecular analysis documented a 22q11 deletion. To our knowledge, limb anomalies have rarely been reported in DiGeorge syndrome, and they illustrate the variable clinical expression of chromosome 22q11 deletions. 13 refs., 2 figs.

• Sponsoring Organization: USDOE
• OSTI ID: 99073
• Journal Information: American Journal of Medical Genetics, Vol. 56, Issue 1; Other Information: PBD: 13 Mar 1995
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
HUMAN CHROMOSOME 22
CHROMOSOMAL ABERRATIONS
GENETIC MAPPING
PATIENTS
MENTAL DISORDERS
CONGENITAL MALFORMATIONS
PHENOTYPE