How many breaks do we need to CATCH on 22q11?

Journal Article · Mon Jul 01 00:00:00 EDT 1996 · American Journal of Human Genetics

OSTI ID:443728

Dallapiccola, B; Pizzuti, A; Novelli, G ^[1]

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1. Univ. of Rome, Rome (Italy)

The major clinical manifestations of DiGeorge syndrome (DGS; MIM 188400), which reflect developmental abnormalities of the 3d and 4th pharyngeal pouch derivatives, include thymus- and parathyroid-gland aplasia or hypoplasia and conotruncal cardiac malformations. The additional dysmorphic facial features, such as hypertelorism, cleft lip and palate, bifid uvula, and small/low-set ears, which are also common, presumably reflect the same defect. The DGS phenotype has been associated with chromosome abnormalities and, sometimes, is the effect of teratogenic agents such as retinoic acid and alcohol. 53 refs., 1 fig.

• OSTI ID: 443728
• Journal Information: American Journal of Human Genetics, Vol. 59, Issue 1; Other Information: PBD: Jul 1996
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
HUMAN CHROMOSOME 22
CHROMOSOMAL ABERRATIONS
GENETIC MAPPING
GENES
TERATOGENS
GENETIC EFFECTS
PATIENTS
HEREDITARY DISEASES
CONGENITAL MALFORMATIONS
PHENOTYPE