A 3-year-old girl with 46,XX,upd(14)mat/47,XX,+14 mosaicism.
A 3-year-old girl with 46,XX,upd(14)mat/47,XX,+14 mosaicism.
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一名 3 岁女孩，患有 46,XX,upd(14)mat/47,XX,14 嵌合体。
DOI：
10.1038/s10038-017-0381-z
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发表时间：
2018
期刊：
影响因子：
--
通讯作者：
Kagami M.
中科院分区：
文献类型：
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作者：
Ushijima K;Yatsuga S;Nakamura A;Fukami M;Kagami M.
14-三体嵌合体的主要症状是产前和产后生长障碍、耳畸形、先天性心脏病、发育迟缓和泌尿生殖系统异常。母亲14号染色体单亲二体（upd（14）mat）表现出明显的临床特征，如产前和产后生长障碍、肌张力减退、性早熟和肥胖。鉴于先前报道的14三体嵌合体和upd（14）mat组合的患者数量较少，这些患者的详细临床特征仍有待阐明。在这里，我们报告了一个严重的短身材的女孩与喂养困难和未能茁壮成长，耳朵畸形，耳聋，小手，发育迟缓。使用白细胞和颊细胞进行的染色体核型分析、FISH分析、甲基化分析和微卫星标记分析显示，她同时患有14三体嵌合体和upd（14）mat。此外，将该患者的临床特征与先前报告的遗传异常患者（包括14三体嵌合体和upd（14）mat或upd（14）mat组合）的临床特征进行比较，表明在14三体嵌合体和upd（14）mat组合患者中观察到的严重矮小源于这两种事件的协同作用。在14三体嵌合体的严重矮小患者中，我们应该注意upd（14）mat的可能共存。
The predominant symptoms of trisomy 14 mosaicism are prenatal and postnatal growth failure, ear abnormalities, congenital heart disease, developmental delay, and genitourinary abnormalities. Maternal uniparental disomy of chromosome 14 (upd(14)mat) presents discernible clinical features such as prenatal and postnatal growth failure, hypotonia, precocious puberty, and obesity. Given the small number of previously reported patients with a combination of trisomy 14 mosaicism and upd(14)mat, the detailed clinical features of these patients remain to be elucidated. Here we report a severely short-statured girl with feeding difficulties and failure to thrive, ear abnormalities, deafness, small hands, and developmental delay. Karyotyping, FISH analysis, methylation analysis, and microsatellite marker analysis using her leukocytes and buccal cells showed that she had a combination of trisomy 14 mosaicism and upd(14)mat. Furthermore, a comparison of the clinical features of this patient with those of previously reported patients with genetic anomalies including the combination of trisomy 14 mosaicism and upd(14)mat or upd(14)mat suggested that the severe short stature observed in patients with a combination of trisomy 14 mosaicism and upd(14)mat stemmed from the synergic effect of these two events. In severely short-statured patients with trisomy 14 mosaicism, we should be aware of the possible coexistence of upd(14)mat.