Velo-cardio-facial and partial DiGeorge phenotype in a child with interstitial deletion at 10p13 - implications for cytogenetics and molecular biology

Journal Article · Mon Nov 11 00:00:00 EST 1996 · American Journal of Medical Genetics

DOI:https://doi.org/10.1002/(SICI)1096-8628(19961111)65:4<304::AID-AJMG11>3.3.CO;2-D· OSTI ID:508241

Lipson, A; Sholler, G; Issacs, D ^[1]

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1. Royal Alexandra Hospital for Children, Sydney (Australia); and others

We report on a female with a interstitial deletion of 10p13 and a phenotype similar to that seen with the 22q deletion syndromes (DiGeorge/velo-cardio-facial). She had a posterior cleft palate, perimembranous ventricular septal defect, dyscoordinate swallowing, T-cell subset abnormalities, small ears, maxillary and mandibular hypoplasia, broad nasal bridge, deficient alae nasi, contractures of fingers and developmental delay. This could indicate homology of some developmental genes at 22q and 10p so that patients with the velocardiofacial phenotype who do not prove to be deleted on 22q are candidates for a 10p deletion. 58 refs., 3 figs.

• OSTI ID: 508241
• Journal Information: American Journal of Medical Genetics, Vol. 65, Issue 4; Other Information: PBD: 11 Nov 1996
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
PATIENTS
HEREDITARY DISEASES
PHENOTYPE
CONGENITAL MALFORMATIONS
MENTAL DISORDERS
HUMAN CHROMOSOMES
CHROMOSOMAL ABERRATIONS
GENETIC MAPPING
GENES
HUMAN CHROMOSOME 22
FLUORESCENCE
IN-SITU HYBRIDIZATION