Intrafamilial and interfamilial variability of phenotype in familial velo-cardio-facial syndrome

Journal Article · Thu Sep 01 00:00:00 EDT 1994 · American Journal of Human Genetics

OSTI ID:134563

Hajianpour, M J ^[1]; Lamb, A ^[2]; Covle, M

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1. Alfigen/The Genetics Institute, Pasadena, CA (United States)
2. Integrated Genetics, Santa Fe, NM (United States)

Two half-sisters and their mother from one family, and two full-brothers and their mother from another family presented with features of velo-cardio-facial syndrome (VCSF)/DiGeorge syndrome (DS) with intrafamilial and interfamilial variability of phenotypic expression. None of these patients had an apparent cleft palate. Cardiac anomaly, jejunal atresia and hypocalcemia were present only in the newborn patient. Fluorescence in situ hybridization for VCFS/DS with probe D22S75 showed a deletion in the 22q11.2 region in patients available for the study.

• OSTI ID: 134563
• Report Number(s): CONF-941009-; ISSN 0002-9297; TRN: 95:005313-1297
• Journal Information: American Journal of Human Genetics, Vol. 55, Issue Suppl.3; Conference: 44. annual meeting of the American Society of Human Genetics, Montreal (Canada), 18-22 Oct 1994; Other Information: PBD: Sep 1994
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
PATIENTS
CONGENITAL MALFORMATIONS
PHENOTYPE
HEREDITARY DISEASES
GENETIC VARIABILITY
HUMAN CHROMOSOME 22
CHROMOSOMAL ABERRATIONS
PROBES
DNA HYBRIDIZATION
FLUORESCENCE
GENETICS