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10号染色体短臂部分三体

Partial trisomy 10p.

作者信息

Grosse K P, Schwanitz G, Singer H, Wieczorek V

出版信息

Humangenetik. 1975 Sep 10;29(2):141-4. doi: 10.1007/BF00430351.

Abstract

It is reported on a boy of 4 years 9 months with trisomy of the distal part of the short arm of a chromosome 10, due to a balanced 7/10 translocation in the father. Besides multiple minor dysmorphias the patient showed severe mental retardation, small stature, hypotonia, retarded bone age. The high and bulky forehead was especially remarkable, because this sign has also been noted in formerly reported cases with trisomy 10p.

摘要

据报道,一名4岁9个月大的男孩因父亲的7号与10号染色体平衡易位,导致10号染色体短臂远端三体。除了多种轻微畸形外,该患者还表现出严重智力发育迟缓、身材矮小、肌张力减退、骨龄延迟。高耸且饱满的额头尤为显著,因为在先前报道的10号染色体短臂三体病例中也观察到了这一特征。

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