De novo interstitial deletion of the long arm of chromosome 2 in a malformed newborn with a karyotype: 46,XY,del(2)(q12q14)

J Antich; X Carbonell; J Mas; N Clusellas

doi:10.1111/j.1651-2227.1983.tb09785.x

De novo interstitial deletion of the long arm of chromosome 2 in a malformed newborn with a karyotype: 46,XY,del(2)(q12q14)

Acta Paediatr Scand. 1983 Jul;72(4):631-3. doi: 10.1111/j.1651-2227.1983.tb09785.x.

Authors

J Antich, X Carbonell, J Mas, N Clusellas

PMID: 6624439
DOI: 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).

Publication types

Case Reports

MeSH terms

Abnormalities, Multiple / genetics*
Chromosome Deletion*
Chromosomes, Human, 1-3*
Humans
Infant
Infant, Newborn
Karyotyping
Male