一名新生儿因母亲4;5平衡易位导致4号染色体部分三体（q31qter）。
Partial trisomy 4(q31qter) due to maternal 4;5 balanced translocation in a neonate.
作者信息
Senses D A, Silan F, Uzun H, Alagöz D, Zafer C, Kocabay K, Karaüzüm S B, Cetin Z
机构信息
Department of Pediatrics, Düzce University, School of Medicine, Düzce, Turkey.
出版信息
Genet Couns. 2007;18(2):163-70.
We describe a male neonate with a duplication of 4(q31.3qter) due to unbalanced segregation of a maternal translocation (4;5)(31.3;p15.1). He has a high broad nasal bridge, large, low-set ears, epicanthal folds, long philtrum, retrognathia, high arched palate, wide-spaced nipples, bilateral single transverse palmar creases, bilateral clinodactyly of the fifth finger, right cryptorchidism, and ventricular and secundum type atrial septal defect.
我们描述了一名男性新生儿，其因母亲的（4；5）（q31.3；p15.1）易位不平衡分离而出现4号染色体（q31.3qter）重复。他有高而宽的鼻梁、大且低位的耳朵、内眦赘皮、长人中、下颌后缩、高拱的上颚、乳头间距宽、双侧单一掌纹、双侧第五指弯曲、右侧隐睾以及室间隔和继发孔型房间隔缺损。
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