Cooke L B, Richards H, Lunt P W, Burvill-Holmes L, Howell R T, McDermott A
Stoke Park Hospital, Stapleton, Bristol, UK.
J Med Genet. 1995 Oct;32(10):825-6. doi: 10.1136/jmg.32.10.825.
A 7 year old boy is described with moderate learning disability, facial dysmorphism, and a de novo duplication of chromosome 2 (q11.2-q21). There are few published reports of proximal 2q duplication, and none reporting direct de novo duplication for this exact region.
一名7岁男孩被描述为患有中度学习障碍、面部畸形,且存在2号染色体(q11.2-q21)的新生重复。关于近端2q重复的已发表报告很少,且没有报告该确切区域的直接新生重复情况。