隐匿性亚端粒易位所致的家族性智力障碍——14号染色体长臂末端缺失和9号染色体长臂末端重复（安永氏表型）
Familial mental retardation due to a cryptic subtelomeric translocation -del 14qter and dup 9qter (the Anyon phenotype).
作者信息
Lowry R Brian, Baker Elizabeth, Dixon Joanne, Hinton Lyn
机构信息
Department of Medical Genetics, Alberta Children's Hospital/University of Calgary, Calgary, Alberta, Canada.
出版信息
Clin Dysmorphol. 2007 Oct;16(4):223-9. doi: 10.1097/MCD.0b013e3282742611.
An example of familial mental retardation is described in which there is a distinctive phenotype. It consists of IQ in the 30-50 range, microcephaly, short stature, narrow skull, prominent ears and nose and a cryptic subtelomeric translocation resulting in del 14qter and dup 9qter. Variable features include congenital heart disease, peripheral neuropathy and epilepsy. The phenotype was described in 1965 by Anyon.
描述了一个家族性智力迟钝的例子，其中存在一种独特的表型。它包括智商在30至50之间、小头畸形、身材矮小、颅骨狭窄、耳朵和鼻子突出，以及导致14qter缺失和9qter重复的隐匿性亚端粒易位。可变特征包括先天性心脏病、周围神经病变和癫痫。这种表型由安永于1965年描述。
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