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A family with a grand-maternally derived interstitial duplication of proximal 15q

被引：44
作者：
Boyar, FZ
Whitney, MM
Lossie, AC
Gray, BA
Keller, KL
Stalker, HJ
Zori, RT
Geffken, G
Mutch, J
Edge, PJ
Voeller, KS
Williams, CA
Driscoll, DJ
机构：
[1] Univ Florida, Coll Med, Raymond C Philips Unit, Div Pediat Genet,Dept Pediat, Gainesville, FL 32610 USA
[2] Univ Florida, Coll Med, Ctr Mammalian Genet, Gainesville, FL 32610 USA
[3] Univ Florida, Coll Med, Greenwood Genet Ctr, Gainesville, FL 32610 USA
[4] Univ Florida, Coll Med, Dept Psychiat, Gainesville, FL 32610 USA
来源：
CLINICAL GENETICS | 2001年 / 60卷 / 06期
关键词：
Angelman; apraxia of speech; autism; chromosome; 15; dyslexia; imprinting; interstitial duplication; phonological awareness deficit;
D O I：
10.1034/j.1399-0004.2001.600604.x
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
About 1% of individuals with autism or types of pervasive developmental disorder have a duplication of the 15q11-q13 region. These abnormalities can be detected by routine G-banded chromosome study, showing an extra marker chromosome, or demonstrated by fluorescence in situ hybridization (FISH) analysis, revealing an interstitial duplication. We report here the molecular, cytogenetic, clinical and neuropsychiatric evaluations of a family in whom 3 of 4 siblings inherited an interstitial duplication of 15q11-q13. This duplication was inherited from their mother who also had a maternally derived duplication. Affected family members had apraxia of speech, phonological awareness deficits, developmental language disorder, dyslexia, as well as limb apraxia but did not have any dysmorphic clinical features. The observations in this family suggest that the phenotypic manifestations of proximal 15q duplications may also involve language-based learning disabilities.
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收藏
页码：421 / 430
页数：10
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