12号染色体长臂部分三体：临床与细胞遗传学观察

Partial trisomy 12q: clinical and cytogenetic observations.

作者信息

Tengström C, Wilska M, Kähkönen M, Autio S, Leisti J

出版信息

Clin Genet. 1985 Aug;28(2):112-7. doi: 10.1111/j.1399-0004.1985.tb00369.x.

DOI:10.1111/j.1399-0004.1985.tb00369.x

Abstract

High resolution chromosome banding showed a male infant with profound mental retardation, hypertonia and multiple congenital anomalies to have the karyotype 46,XY,-der (2),t(2;12)(q37.3;q24.13)pat. Most of the clinical findings were compatible with those of the previously described cases with partial trisomy 12q. Some of the clinical features seem to disappear with increasing age.

摘要

高分辨率染色体显带显示，一名患有严重智力迟钝、肌张力亢进和多种先天性异常的男婴，其核型为46,XY，-der(2)，t(2;12)(q37.3;q24.13)pat。大多数临床发现与先前描述的部分12q三体病例相符。一些临床特征似乎随着年龄增长而消失。