A case of de novo interstitial deletion 3q.
Open Access
- 1 May 1987
- journal article
- case report
- Published by BMJ in Journal of Medical Genetics
- Vol. 24 (5) , 305-308
- https://doi.org/10.1136/jmg.24.5.305
Abstract
A rare chromosome abnormality consisting of interstitial deletion 3q was found in a malformed girl. Chromosome analysis using G and Q banding showed deletion of bands 3q12----3q21: 46,XX,del(3)(pter----q12::q21----qter). The clinical features of the proband included severe psychomotor retardation, craniofacial asymmetry, hypertelorism, epicanthus, high arched palate, progressive scoliosis, multiple skin pigmentations, and renal abnormalities. The parents had normal karyotypes.Keywords
This publication has 3 references indexed in Scilit:
- Interstitial deletion of the long arm of chromosome 3 in a patient with mental retardation and congenital anomaliesHuman Genetics, 1983
- Interstitial deletion of the long arm of chromosome 3.1983
- Familial insertional translocation of a portion of 3q into 11q resulting in duplication and deletion of region 3q22.1→q24 in different offspringAmerican Journal of Medical Genetics, 1981