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首页> 美国卫生研究院文献>Case Reports in Genetics >Autism Spectrum Disorder in a Girl with a De Novo X;19 Balanced Translocation
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Autism Spectrum Disorder in a Girl with a De Novo X;19 Balanced Translocation

机译：患有De Novo X; 19平衡易位的女孩的自闭症谱系障碍

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摘要

Balanced X-autosome translocations are rare, and female carriers are a clinically heterogeneous group of patients, with phenotypically normal women, history of recurrent miscarriage, gonadal dysfunction, X-linked disorders or congenital abnormalities, and/or developmental delay. We investigated a patient with a de novo X;19 translocation. The six-year-old girl has been evaluated due to hyperactivity, social interaction impairment, stereotypic and repetitive use of language with echolalia, failure to follow parents/caretakers orders, inconsolable outbursts, and persistent preoccupation with parts of objects. The girl has normal cognitive function. Her measurements are within normal range, and no other abnormalities were found during physical, neurological, or dysmorphological examinations. Conventional cytogenetic analysis showed a de novo balanced translocation, with the karyotype 46,X,t(X;19)(p21.2;q13.4). Replication banding showed a clear preference for inactivation of the normal X chromosome. The translocation was confirmed by FISH and Spectral Karyotyping (SKY). Although abnormal phenotypes associated with de novo balanced chromosomal rearrangements may be the result of disruption of a gene at one of the breakpoints, submicroscopic deletion or duplication, or a position effect, X; autosomal translocations are associated with additional unique risk factors including X-linked disorders, functional autosomal monosomy, or functional X chromosome disomy resulting from the complex X-inactivation process.
机译：平衡的X常染色体易位很少，女性携带者是临床上异类的患者群体，具有表型正常的女性，反复流产史，性腺功能障碍，X连锁障碍或先天性异常和/或发育延迟。我们调查了一名从头X; 19易位的患者。由于活动过度，社交互动障碍，刻板印象和反复使用语言伴有回声症，未能遵守父母/看护人的命令，爆发性的爆发以及对某些物体的持续专注，对这名六岁女孩进行了评估。这个女孩有正常的认知功能。她的测量值在正常范围内，在身体，神经或畸形检查中未发现其他异常。常规细胞遗传学分析显示从头平衡易位，核型为46，X，t（X; 19）（p21.2; q13.4）。复制条带显示出对正常X染色体灭活的明显偏好。通过FISH和光谱核型分析（SKY）证实了易位。尽管与从头平衡染色体重排有关的异常表型可能是某个断点处的基因被破坏，亚显微缺失或重复或位置效应所致，常染色体易位与其他独特的危险因素有关，包括由复杂的X灭活过程导致的X连锁性疾病，功能性常染色体单体性或功能性X染色体二体性。

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