Rodríguez V R, Mazzucato L F, Pina-Neto J M
Departamento de Genética, Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo, Ribeirão Preto, SP, Brasil.
Braz J Med Biol Res. 2008 Aug;41(8):681-3. doi: 10.1590/s0100-879x2008000800007.
Monosomy 1p36 is the most common subtelomeric microdeletion syndrome with an incidence rate estimated to be 1 in 5000 births. A hypothesis of a similarity between patients with 1p36 deletion and those with Prader-Willi syndrome and the existence of two different phenotypes for 1p36 microdeletion has been suggested. The main objective of the present study was to determine the existence of 1p36 microdeletion in a sample of patients with mental retardation, obesity and hyperphagia who tested negative by the methylation test for Prader-Willi syndrome. Sixteen patients (7 females, 9 males), 16-26 years old, were evaluated with high-resolution cytogenetic analysis at 550-850 band levels and with 11 polymorphic microsatellite markers located in the 1p36 region. All patients had normal cytogenetic and molecular results. The results obtained by high-resolution cytogenetic methodology were confirmed by the molecular analyses. We did not detect a 1p36 microdeletion in 16 subjects with the Prader-Willi-like phenotype, which reinforces that no correlation seems to exist between Prader-Willi-like phenotype and the 1p36 microdeletion syndrome.
1p36单体是最常见的亚端粒微缺失综合征，估计发病率为每5000例出生中有1例。有人提出1p36缺失患者与普拉德-威利综合征患者存在相似性的假说，并且1p36微缺失存在两种不同表型。本研究的主要目的是确定在智力发育迟缓、肥胖和食欲亢进且普拉德-威利综合征甲基化检测呈阴性的患者样本中是否存在1p36微缺失。对16名年龄在16至26岁之间的患者（7名女性，9名男性）进行了评估，采用550 - 850条带水平的高分辨率细胞遗传学分析以及位于1p36区域的11个多态性微卫星标记。所有患者的细胞遗传学和分子结果均正常。分子分析证实了通过高分辨率细胞遗传学方法获得的结果。我们在16名具有普拉德-威利样表型的受试者中未检测到1p36微缺失，这进一步证明普拉德-威利样表型与1p36微缺失综合征之间似乎不存在相关性。
