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16号染色体缺失伴生存期延长及不寻常的影像学表现。

Deletion of 16q with prolonged survival and unusual radiographic manifestations.

作者信息

Casamassima A C, Klein R M, Wilmot P L, Brenholz P, Shapiro L R

机构信息

Department of Pediatrics, New York Medical College, Valhalla.

出版信息

Am J Med Genet. 1990 Dec;37(4):504-9. doi: 10.1002/ajmg.1320370414.

Abstract

Deletion of 16q is characterized by mental retardation, microcephaly, a characteristic combination of minor facial anomalies, and broad halluces. Various break points have been described. This patient's phenotype is typical of this syndrome, but in addition, unusual radiographic findings were present. This chromosome abnormality is compatible with survival into adulthood. Expression of this phenotype does not appear to be correlated with specific break points.

摘要

16号染色体缺失的特征为智力迟钝、小头畸形、轻微面部异常的典型组合以及拇趾宽大。已描述了各种断点。该患者的表型是此综合征的典型表现,但此外还存在异常的影像学发现。这种染色体异常与存活至成年期相符。这种表型的表达似乎与特定断点无关。

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