Limb anomalies in DiGeorge and CHARGE syndromes

Journal Article · Mon Jan 20 00:00:00 EST 1997 · American Journal of Medical Genetics

DOI:https://doi.org/10.1002/(SICI)1096-8628(19970120)68:2<179::AID-AJMG11>3.0.CO;2-R· OSTI ID:518290

Prasad, C; Quackenbush, E J; Whiteman, D; Korf, B ^[1]

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1. Harvard Medical School, Boston, MA (United States)

Limb anomalies are not common in the DiGeorge or CHARGE syndromes. We describe limb anomalies in two children, one with DiGeorge and the other with CHARGE syndrome. Our first patient had a bifid left thumb, Tetralogy of Fallot, absent thymus, right facial palsy, and a reduced number of T-cells. A deletion of 22q11 was detected by fluorescence in situ hybridization (FISH). The second patient, with CHARGE syndrome, had asymmetric findings that included right fifth finger clinodactyly, camptodactyly, tibial hemimelia and dimpling, and severe club-foot. The expanded spectrum of the DiGeorge and CHARGE syndromes includes limb anomalies. 14 refs., 4 figs.

• OSTI ID: 518290
• Journal Information: American Journal of Medical Genetics, Vol. 68, Issue 2; Other Information: PBD: 20 Jan 1997
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
PATIENTS
CONGENITAL MALFORMATIONS
HEREDITARY DISEASES
KARYOTYPE
PHENOTYPE
HUMAN CHROMOSOME 22
CHROMOSOMAL ABERRATIONS
DETECTION
IN-SITU HYBRIDIZATION
FLUORESCENCE