一名2岁女童的14号染色体三体嵌合体。

Petersen M B, Vejerslev L O, Beck B

J Med Genet. 1986 Feb;23(1):86-8. doi: 10.1136/jmg.23.1.86.

Trisomy 14 mosaicism with 6% trisomic cells in blood and 16% in skin fibroblasts was found in a 2 year 2 month old girl with mild psychomotor retardation, craniofacial dysmorphism, pectus carinatum, curved fifth fingers, retarded bone age, and signs of an ASD. These findings are consistent with the previously reported cases of trisomy 14 mosaicism and support the suggested existence of a distinctive syndrome. Non-disjunction studies showed that the extra chromosome 14 originated from either a second paternal meiotic error or an early mitotic error.

在一名2岁2个月大的女童中发现了14号染色体三体镶嵌现象，血液中三体细胞占6%，皮肤成纤维细胞中占16%。该女童有轻度精神运动发育迟缓、颅面畸形、鸡胸、第五指弯曲、骨龄延迟以及自闭症谱系障碍的体征。这些发现与先前报道的14号染色体三体镶嵌病例一致，并支持了一种独特综合征的存在。不分离研究表明，额外的14号染色体源自父方第二次减数分裂错误或早期有丝分裂错误。