论文部分内容阅读
本文报告一例具有16号染色体短臂带有额外遗传物质(46,XY,16p~+)的婴儿出生时的临床特征。受累婴儿染色体异常与特异的临床表现相关。先证者是由一位19岁黑人母亲所生,妊娠期的前两个月曾服用安菲太明(amphetamines),导致妊娠并发症。妊娠31周时出生,体重伪1,680g,该患儿伴有多种先天性异常:头发稀少,睑裂小、两眼间距宽,扁平睑和扁平鼻、鼻梁低,软腭裂,小颌畸形。两耳不对称和低位。骨髂异
This article reports the clinical features of an infant with a short arm on chromosome 16 with extra genetic material (46, XY, 16p ~ +). Affected infant chromosomal abnormalities are associated with specific clinical manifestations. The proband was born by a 19-year-old black mother who had taken amphetamines in the first two months of pregnancy, leading to pregnancy complications. Born at 31 weeks of gestation, the body weight is 1,680 grams. The child has multiple congenital anomalies: rare hair, small palpebral fissure, wide interocular space, flat eyelid and flat nose, low nasal bridge, soft palate and small jaw deformity. Ears asymmetric and low. Bony iliac