Cotter P D, Kaffe S, McCurdy L D, Jhaveri M, Willner J P, Hirschhorn K
Department of Human Genetics, Mount Sinai School of Medicine, New York, New York, USA.
Am J Med Genet. 1997 May 2;70(1):74-9. doi: 10.1002/(sici)1096-8628(19970502)70:1<74::aid-ajmg14>3.0.co;2-u.
Uniparental disomy (UPD) for several chromosomes has been associated with disease phenotypes. Maternal UPD for chromosome 14 has been described and has a characteristic abnormal phenotype. Paternal UPD14 is rare and only three previous cases have been reported. We describe a new case of paternal UPD for chromosome 14 in an infant with a 45,XX,der(13q;14q) karyotype, which was confirmed by molecular analysis. The proposita had findings similar to those of the previous cases of patUPD14 and we conclude that there is a characteristic patUPD14 syndrome most likely due to imprinting effects. Couples with Robertsonian translocations involving chromosome 14 should be counseled as to the possibility of UPD14 and the option of prenatal diagnosis when indicated.
多条染色体的单亲二体性（UPD）与疾病表型相关。已报道了14号染色体的母源UPD，并具有特征性异常表型。父源UPD14罕见，此前仅报道过3例。我们描述了1例核型为45,XX,der(13q;14q)的婴儿中14号染色体父源UPD的新病例，经分子分析得以证实。该先证者具有与既往父源UPD14病例相似的表现，我们得出结论，很可能由于印记效应存在一种特征性的父源UPD14综合征。涉及14号染色体的罗伯逊易位夫妇应被告知存在UPD14的可能性以及必要时进行产前诊断的选择。
