Zenger-Hain J L, Roberson J, Van Dyke D L, Weiss L
Medical Genetics and Birth Defects Center, Henry Ford Hospital, Detroit, MI 48202.
Am J Med Genet. 1993 Jun 1;46(4):438-40. doi: 10.1002/ajmg.1320460418.
We describe a 4-year-old boy with an interstitial deletion of the long arm of chromosome 10: del(10) (q11.2q22.1). Frontal bossing, hypertelorism, bright blue iris color, up-slanting palpebral fissures, a flat nasal bridge, a broad nose, apparently low-set ears, micrognathia, deep philtrum, and hypotonia were noted neonatally. A murmur was noted at age 5 1/2 months and surgical repair of subaortic stenosis was required at 4 years. At 4 years micrognathia was no longer evident, but the palate was high-arched. The pattern of abnormalities included postnatal-onset slow growth, short stature, mental retardation, and cardiac anomalies.
我们描述了一名4岁男孩，其10号染色体长臂存在间质性缺失：del(10)(q11.2q22.1)。出生时即发现有前额突出、眼距增宽、明亮的蓝色虹膜颜色、上斜睑裂、鼻梁扁平、鼻子宽阔、耳朵明显低位、小颌畸形、人中深陷及肌张力减退。5个半月时发现有杂音，4岁时需要对主动脉瓣下狭窄进行手术修复。4岁时小颌畸形不再明显，但腭弓高。异常模式包括出生后开始的生长缓慢、身材矮小、智力迟钝和心脏异常。
