Short rib-polydactyly syndrome and pericentric inversion of chromosome 4

Journal Article · Sat Jan 01 00:00:00 EST 1994 · American Journal of Medical Genetics

DOI:https://doi.org/10.1002/ajmg.1320490118· OSTI ID:86477

Urioste, M ^[1]; Martinez-Frias, M L; Bermejo, E; Villa, A ^[2]; Jimenez, N; Romero, D; Nieto, C ^[3]

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1. Universitario San Carlos (Spain)
2. Universidad Complutense, Madrid (Spain)
3. Hospital General, Segovia (Spain)

The authors report on a newborn infant with clinical and radiological manifestations of some type of short rib-polydactyly syndrome who died soon after birth. Chromosomal studies on peripheral blood lymphocytes and chondrocytes demonstrated an apparently balanced pericentric inversion of chromosome 4 (present in the mother also). This association may have occurred by chance but, if not, the chromosomal breakpoints could interrupt the gene responsible for short rib-polydactyly syndromes, or else be related to the mechanism of short rib-polydactyly syndromes. 23 refs., 4 figs.

• Sponsoring Organization: USDOE
• OSTI ID: 86477
• Journal Information: American Journal of Medical Genetics, Vol. 49, Issue 1; Other Information: PBD: 1 Jan 1994
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
HUMAN CHROMOSOMES
CHROMOSOMAL ABERRATIONS
SKELETON
CONGENITAL MALFORMATIONS