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DE NOVO INTERSTITIAL DELETION OF THE LONG ARM OF CHROMOSOME 2 IN A MALFORMED NEWBORN WITH A KARYOTYPE: 46, XY, del(2)(q12q14)
Author(s) -
ANTICH J.,
CARBONELL X.,
MAS J.,
CLUSELLAS N.
Publication year - 1983
Publication title -
acta pædiatrica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.772
H-Index - 115
eISSN - 1651-2227
pISSN - 0803-5253
DOI - 10.1111/j.1651-2227.1983.tb09785.x
Subject(s) - medicine , karyotype , imperforate anus , agenesis of the corpus callosum , anatomy , long arm , facial dysmorphism , corpus callosum agenesis , corpus callosum , chromosome , genetics , biology , gene , phenotype
ABSTRACT. A male neonate with severe malformations, including facial dysmorphism, a short neck, postaxial‐hexadactyly of the toes, congenital herat disease, hydronephrosis, imperforate anus and agenesis of corpus callosum, is described. His karyotype was 46, XYdel(2)(q12q14).