Interstitial deletion of the long arm of chromosome 2 in a malformed infant with karyotype 46, XX, del(2) (q31q33)
- 1 November 1986
- journal article
- research article
- Published by Wiley in American Journal of Medical Genetics
- Vol. 25 (3) , 405-411
- https://doi.org/10.1002/ajmg.1320250302
Abstract
We describe a malformed newborn girl with an interstitial deletion of the long arm of chromosome 2 (karyotype: 46, XX, del (2) (q31q33)). This is the first report of this particular chromosome abnormality that includes autopsy findings. Comparison with previous cases in the literature suggests that this particular deletion uniformly results in developmental delays, craniofacial changes, and occasionally results in microcephaly, low‐set ears, and hand and foot abnormalities.Keywords
This publication has 9 references indexed in Scilit:
- Interstitial deletion of chromosome 2.Journal of Medical Genetics, 1985
- Interstitial deletion of the long arm of chromosome 2: del(2)(q31q33).Journal of Medical Genetics, 1983
- Interstitial deletion of the long arm of chromosome 2 (q31q33) in a girl with multiple anomalies and mental retardationHuman Genetics, 1983
- DE NOVO INTERSTITIAL DELETION OF THE LONG ARM OF CHROMOSOME 2 IN A MALFORMED NEWBORN WITH A KARYOTYPE: 46, XY, del(2)(q12q14)Acta Paediatrica, 1983
- Deletion 2q: two new cases with karyotypes 46,XY,del(2)(q31q33) and 46,XX,del(2)(q36).Journal of Medical Genetics, 1983
- INTERSTITIAL DELETION OF THE LONG ARM OF CHROMOSOME-2 - CASE-REPORT AND REVIEW OF LITERATURE1981
- Interstitial deletion of the long arm of chromosome 2 in a polymalformed newborn-karyotype: 46,XX,del(2)(q21;q24)Human Genetics, 1977
- Severe mental retardation in a boy with partial trisomy 10q and partial monosomy 2q.Journal of Medical Genetics, 1976
- Etude chromosomique et clinique d'une fillette porteuse d'une deletion (2) (q34q36)Human Genetics, 1976