由于父亲平衡易位46,XY,t(1;14)(q44;q22)导致的14号染色体长臂三次三体性
Tertiary trisomy 14q--, due to paternal balanced translocation 46,XY,t(1;14)(q44;q22).
作者信息
Kovacs G, Mihai C
出版信息
Hum Genet. 1979 Jun 19;49(2):175-8. doi: 10.1007/BF00277639.
PMID:468247
Abstract
Retardation of growth and mental development, craniofacial dysmorphy, limb anomalies, cryptorchidism and repeated infections are observed in a child with 47,XY,+der(14),t(1;14)(q44;q22)pat.
摘要
在一名患有47,XY,+der(14),t(1;14)(q44;q22)pat的儿童中观察到生长和智力发育迟缓、颅面畸形、肢体异常、隐睾症和反复感染。
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