Romero V I, Pozo J C, Saenz S, Llamos-Paneque A, Liehr T, Hosomichi K, Tajima A
School of Medicine, Universidad San Francisco de Quito, Quito, Ecuador.
Specialty Army Hospital No. 1. Medical Genetic Services, Sciences of Life Faculty, School of Dentistry, International University of Ecuador, Quito, Ecuador.
Hum Genome Var. 2020 Sep 25;7:28. doi: 10.1038/s41439-020-00113-x. eCollection 2020.
A 1-year-old baby with phylloid-type pigmentary mosaicism, hypotonia, ambiguous genitalia, and a positive screening test for congenital adrenal hyperplasia was referred. Previous sonograph, cytogenetics, and metabolic profile were inconclusive, therefore we performed an additional karyotype and a molecular cytogenetics studies. A mosaic karyotype 45,X/46,X,der(Y)t(Y;14) was characterized in peripheral blood. Congenital adrenal hyperplasia genes were sequenced and the results were negative. The ambiguous genitalia was the result of the special gonosomal mosaicism. The low level of trisomy 14 led to minor physical characteristics and mild mental retardation; also, Turner syndrome features can be expected rather than severe trisomy 14 stigmata.
一名患有叶状色素镶嵌症、肌张力减退、生殖器模糊且先天性肾上腺皮质增生筛查试验呈阳性的1岁婴儿前来就诊。之前的超声检查、细胞遗传学和代谢谱检查结果不明确，因此我们进行了额外的核型分析和分子细胞遗传学研究。外周血中检测到嵌合核型45,X/46,X,der(Y)t(Y;14)。对先天性肾上腺皮质增生相关基因进行测序，结果为阴性。生殖器模糊是特殊的性染色体嵌合现象导致的。14号染色体三体水平较低导致了轻微的身体特征和轻度智力发育迟缓；此外，预计会出现特纳综合征的特征，而非严重的14号染色体三体的体征。
