Unbalanced karyotype, dup 14(q13‐q22), in a mother and her two children
- 1 November 1996
- journal article
- case report
- Published by Wiley in Clinical Genetics
- Vol. 50 (5) , 398-402
- https://doi.org/10.1111/j.1399-0004.1996.tb02395.x
Abstract
A duplication of chromosome 14(q13-q22) caused mild mental retardation and some dysmorphic features in two children and their mother. The unbalanced karyotype did not affect the fertility of the mother. Fluorescent in situ hybridization, with a chromosome 14 specific paint, was used to confirm that the inserted material was from chromosome 14.Keywords
This publication has 28 references indexed in Scilit:
- A prenatally discovered unbalanced translocation t(14;22) (q22 or 23;q13)Hereditas, 2009
- Reproductive possibilities for balanced translocation (14) carriers in families with partial trisomy of proximal 14q.Journal of Medical Genetics, 1993
- Maternal uniparental disomy for chromosome 14.Journal of Medical Genetics, 1991
- Prenatal diagnosis of trisomy for the distal two‐thirds of the long arm of chromosome 14 (q21→qter)Prenatal Diagnosis, 1990
- Pubertal development in partial trisomy 14q.Journal of Medical Genetics, 1988
- Partial trisomy 14q24 leads to qter.Journal of Medical Genetics, 1983
- Duplication of the distal segment of 14qAmerican Journal of Medical Genetics, 1983
- Tandem duplication of chromosome 14 (q24+q32) in male newborn with congenital malformationsClinical Genetics, 1983
- A child trisomic for the distal part of chromosome 14q.Archives of Disease in Childhood, 1980
- Pericentric inversion of chromosome 14 and the risk of partial duplication of 14q (14q31 → 14qter)American Journal of Medical Genetics, 1977