Early renal insufficiency in a neonate with de novo partial trisomy of chromosome 10q.
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 extremities 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.
Varda
Natasa Marcun
NM
Department of Pediatrics, Maribor Teaching Hospital, Ljubljanska 5, 2000 Maribor, Slovenia. aleksander.varda@amis.net
Kokalj Vokac
N
N
Kanic
Z
Z
Bracic
K
K
Erjavec
A
A
Zagradisnik
B
B
Gregoric
A
A
D000015:Abnormalities, Multiple / Q000235:genetics*; D002879:Chromosomes, Human, Pair 10 / Q000235:genetics*; D006130:Growth Disorders / Q000235:genetics; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D011596:Psychomotor Disorders / Q000235:genetics; D051437:Renal Insufficiency / Q000235:genetics* / Q000503:physiopathology; D014314:Trisomy / Q000235:genetics / Q000503:physiopathology*