DE NOVO INTERSTITIAL DELETION OF THE LONG ARM OF CHROMOSOME 2 IN A MALFORMED NEWBORN WITH A KARYOTYPE: 46, XY, del(2)(q12q14)

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).

A presumptive translocation 1p;2q resulting in duplication 1p and deletion 2q

“…Deletion 2q is more common and has been reported in at least 14 cases [Al-Awadi et al, 1983;Antich et al, 1983;Benson et al, 1986;Bernar et al, 1985;Franceschini et al, 1983;Fryns et al, 1977;Markovii. et al, 1985;McConnell et al, 1980;Sanchez and Pantano, 1984;Shabtai et al, 1982;Taysi et al, 1981;Warter et al, 1976;Young et al, 19831.…”

A de novo POU3F3 Deletion in a Boy with Intellectual Disability and Dysmorphic Features

“…This is the first report describing a patient with a cryptic deletion in chromosome band 2q12.1. A large deletion of 2q12q14 in a neonate with severe multiple malformations has been reported [Antich et al, 1983], but comparison of our case with this one is not useful due to the large difference in the deletion size.…”

Small interstitial deletion of the long arm of chromosome 2 (2q24.3): Further delineation of 2q medial monosomy syndrome

“…The phenotype of distal 2q deletions is mild and apparently distinct from that of medial 2q deletion (Fisher et al, 1994). Few cases of proximal 2q deletions have been reported with more severe internal malformations (Antich et aL, 1981;Fryns et al, 1977).…”