Eugster E A, Berry S A, Hirsch B
Department of Pediatrics, University of Minnesota, Minneapolis, USA.
Am J Med Genet. 1997 Jun 27;70(4):409-12. doi: 10.1002/(sici)1096-8628(19970627)70:4<409::aid-ajmg14>3.0.co;2-l.
We report on a 4-year-old girl with obesity and hyperphagia whose peripheral blood cytogenetic analysis showed mosaicism for a deletion of band 1p36.33. Terminal 1p deletions are rarely reported and this patient represents the first identified case of mosaicism. Given the subtlety of the cytogenetic abnormality and the possibility of mosaicism, the incidence of such deletions has probably been underestimated. While a characteristic phenotype associated with this karyotypic abnormality was described recently, the present report highlights the additional clinical findings of obesity and hyperphagia and the overlap of manifestations with Prader-Willi syndrome.
我们报告了一名4岁肥胖且食欲亢进的女孩，其外周血细胞遗传学分析显示存在1p36.33带缺失的嵌合体。1p末端缺失鲜有报道，该患者是首例被确认的嵌合体病例。鉴于细胞遗传学异常的隐匿性以及存在嵌合体的可能性，此类缺失的发生率可能被低估了。虽然最近描述了与这种核型异常相关的特征性表型，但本报告强调了肥胖和食欲亢进的额外临床发现以及与普拉德-威利综合征表现的重叠。
