Fridman C, Varela M C, Nicholls R D, Koiffmann C P
Department of Biology, Institute of Bioscience, University of São Paulo, SP, Brazil.
Clin Genet. 1998 Oct;54(4):303-8. doi: 10.1034/j.1399-0004.1998.5440407.x.
We had previously described a patient with an overgrowth syndrome and the chromosome constitution 45,XY,t(15q15q) (Wajntal et al., DNA Cell Biol 1993: 12: 227-231). Clinical reassessment and the use of molecular studies, including methylation analysis with an SNRPN probe, microsatellite analyses of D15S11, GABRB3 and D15S113 loci, and fluorescence in situ hybridization (FISH) using the SNRPN and GABRB3 probes, are consistent with a diagnosis of Angelman syndrome (AS) due to paternal isodisomy. This is the fourth report case of a translocation 15q15q with paternal uniparental disomy (UPD). Our findings suggest that some patients with clinical features of AS have hyperphagia and obesity with overgrowth, and that these features should not rule out a diagnosis of AS.
我们之前曾描述过一名患有过度生长综合征且染色体组成为45,XY,t(15q15q)的患者（Wajntal等人，《DNA细胞生物学》1993年：12：227 - 231）。临床重新评估以及分子研究的应用，包括使用SNRPN探针进行甲基化分析、对D15S11、GABRB3和D15S113位点进行微卫星分析，以及使用SNRPN和GABRB3探针进行荧光原位杂交（FISH），均与因父源同二体导致的天使综合征（AS）诊断相符。这是第四例关于15q15q易位伴父源单亲二体（UPD）的报告病例。我们的研究结果表明，一些具有AS临床特征的患者存在贪食和肥胖并伴有过度生长，且这些特征不应排除AS的诊断。
