De novo 13q paracentric inversion in a boy with cleft palate and mental retardation.

Autor: Riccardi, V., Holmquist, G.
Zdroj: Human Genetics; 1979, Vol. 52 Issue 2, p211-215, 5p
Abstrakt: A paracentric inversion in chromosome 13, inv(13)(q12q22), is described in a boy with mild mental retardation and multiple minor anomalies. Bromodeoxyuridine-late replication studies showed no changes in the replication pattern of bands in the abnormal chromosome 13. The relation between the proband's phenotype and his inv(13) is unclear. [ABSTRACT FROM AUTHOR]
Databáze: Complementary Index