Author/Editor		Marčun-Varda, Nataša; Kokalj-Vokač, N; Kanič, Z; Bračič, K; Erjavec, A; Zagradišnik, B; Gregorič, A
Title		Early renal insufficiency in a neonate with de novo partial trisomy of chromosome 10q
Type		članek
Source		Am J Med Genet
Vol. and No.		Letnik 123, št. 2
Publication year		2003
Volume		str. 164-8
Language		eng
Abstract		Partial trisomy of the long arm of chromosome 10 is a well-defined-but rare syndrome. Clinical features of this chromosomopathy are a distinctive dysmorphic appearance, developmental delay, growth retardation, and in some cases, abnormalities of the estremities and renal, cardiac and ocular anomalies. This report describes a neonate with symmetric growth retardation and multiple dysmorphic features, in whom chromosomal analysis revealed a partial trisomy of chromosome 10q with a monosomy of the 13q34 region. The phenotype shares many common features with previously published cases. In addition to the typical features, our case also shows renal hypoplasia with early renal insufficiency and some genital anomalies.
Descriptors		ABNORMALITIES, MULTIPLE TRISOMY CHROMOSOMES, HUMAN, PAIR 10 KIDNEY FAILURE KARYOTYPING INFANT, NEWBORN