Avtor/Urednik		Vraneković, J; Brajenović-Milić, B; Modrušan-Mozetić, Z; Babić, I; Kapović, M
Naslov		Severe psychomotor retardation in a boy with a small supernumerary marker chromosome 19p
Tip		članek
Vir		Cytogenet Genome Res
Vol. in št.		Letnik 121, št. 3-4
Leto izdaje		2008
Obseg		str. 298-301
Jezik		eng
Abstrakt		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.
Deskriptorji		CHROMOSOME ABERRATIONS CHROMOSOMES, HUMAN, PAIR 19 PSYCHOMOTOR PERFORMANCE ABNORMALITIES, MULTIPLE FACIES INFANT KARYOTYPING MAGNETIC RESONANCE IMAGING TEMPORAL LOBE