DE NOVO INTERSTITIAL DELETION OF THE LONG ARM OF CHROMOSOME 2 IN A MALFORMED NEWBORN WITH A KARYOTYPE: 46, XY, del(2)(q12q14)
- 1 July 1983
- journal article
- case report
- Published by Wiley in Acta Paediatrica
- Vol. 72 (4) , 631-633
- https://doi.org/10.1111/j.1651-2227.1983.tb09785.x
Abstract
A male neonate with severe malformations, including facial dysmorphism, a short neck, postaxial-hexadactyly of the toes, congenital heart disease, hydronephrosis, imperforate anus and agenesis of corpus callosum, is described. His karyotype was 46,XYdel(2)(q12q14).Keywords
This publication has 3 references indexed in Scilit:
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- 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