Characterization of an autism-associated segmental maternal heterodisomy of the chromosome 15q11-13 region

被引：19
作者：
Kwasnicka-Crawford, Dorota A.
Roberts, Wendy
Scherer, Stephen W.
机构：
[1] Hosp Sick Children, Program Genet & Genom Biol, Toronto, ON M5G 1X8, Canada
[2] York Univ, Fac Hlth, Dept Kinesiol & Hlth Sci, Toronto, ON M3J 2R7, Canada
[3] Child Dev Ctr, Dept Pediat, Toronto, ON, Canada
[4] Univ Toronto, Dept Mol & Med Genet, Toronto, ON, Canada
来源：
JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS | 2007年 / 37卷 / 04期
关键词：
autistic disorder; chromosomal anomalies; Prader Willi/Angelman region; small supernumerary chromosome;
D O I：
10.1007/s10803-006-0225-8
中图分类号：
B844 [发展心理学（人类心理学）];
学科分类号：
040202 ;
摘要：
Cytogenetic abnormalities in the Prader-Willi/Angelman syndrome (PWS/AS) critical region have been described in individuals with autism. Maternal duplications and linkage disequilibrium in families with autism suggest the existence of a susceptibility locus at 15q11-q13. Here, we describe a 6-year-old girl diagnosed with autism, developmental delay, and delayed expressive and receptive language. The karyotype was designated de novo 47, XX, idic(15)(q13). Fluorescence in situ hybridization (FISH) and molecular analysis with 15q11-q13 markers revealed an additional copy of the region being of maternal origin. Duplication of the 15q11-q13 segment represents the most consistent known chromosomal abnormality reported in association with autism. This present case report reinforces the hypothesis that additional copies of this chromosome segment are causally related to autism.
引用
收藏
页码：694 / 702
页数：9
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