Naslov
Severe psychomotor retardation in a boy with a small supernumerary marker chromosome 19p

Autori
Jadranka Vraneković, Bojana Brajenović-Milić, Zlata Modrušan-Mozetić, Ivana Babić, Miljenko Kapović

Izvornik
Cytogenetic and Genome Research (1424-8581) 121 (2008), 3-4; 298-301

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, članak, znanstveni

Ključne riječi
chromosome 19p; psychomotor retardation; supernumerary marker chromosome

Sažetak
We describe the clinical case of a nine-year-old boy with psychomotor retardation and a small supernumerary marker chromosome (sSMC) present in mosaic form. Fluorescence in situ hybridization (FISH) using centromere cross-hybridizing probes D1/5/19Z (pZ5.1), the whole chromosome paint probe 19, pool YACs19p (839B1, 872G3, 728C8), and pool YACs19q (767C4, 761C1, 786G6) demonstrated that the sSMC was derived from chromosome 19p. Based on GTG-banding and FISH analyses, the patient’ s karyotype was interpreted as: 47, XY, + mar.ish der(19)(:p13.3  p11:)(839B1+, 872G3+, 728C8+, D1/5/19Z+) de novo [52] /46, XY [48]. To our knowledge, only two other similar cases have been reported. This case helps to better delineate karyotype-phenotype correlations between sSMC 19p and associated clinical phenomena.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti

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