Novel chromosomal translocation t(11;9)(p15;p23) involving deletion and duplication of 9p in a girl associated with autism and mental retardation

Gene ◽  
2012 ◽  
Vol 502 (2) ◽  
pp. 154-158 ◽  
Author(s):  
Yao Yang ◽  
Chunzhi Wang ◽  
Fang Wang ◽  
Lina Zhu ◽  
Haihong Liu ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Chromosomal Translocation

Uses and Abuses of the ITPA

1978 ◽  
Vol 43 (2) ◽  
pp. 271-271
Author(s):  
Samuel A. Kirk ◽  
Winifred D. Kirk
Keyword(s):  
Mental Retardation ◽  
Learning Disability ◽  
Chromosomal Translocation ◽  
Mentally Retarded ◽  
Trainable Mentally Retarded

In the February 1978 issue, the article by Samuel A. Kirk and Winifred D. Kirk, “Uses and Abuses of the ITPA,” contains an error. The description in the legend of Figure 1 should read, “Profile A, A case of chromosomal translocation classified as trainable mentally retarded but should be classified as a child with a learning disability; Profile B, A case of general mental retardation.”

scholarly journals A balanced chromosomal translocation disruptingARHGEF9is associated with epilepsy, anxiety, aggression, and mental retardation

2009 ◽  
Vol 30 (1) ◽  
pp. 61-68 ◽  
Author(s):  
Vera M. Kalscheuer ◽  
Luciana Musante ◽  
Cheng Fang ◽  
Kirsten Hoffmann ◽  
Celine Fuchs ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Chromosomal Translocation

Jansky-Bielschowsky syndrome, a lysosomal disease: First diagnosed cash in Oman

1992 ◽  
Vol 50 (1) ◽  
pp. 632-633
Author(s):  
Line Buhl ◽  
David Muirhead
Keyword(s):  
Mental Retardation ◽  
Clinical Picture ◽  
Neurological Disorder ◽  
Clinical Presentation ◽  
Neuronal Ceroid Lipofuscinosis ◽  
Infantile Form ◽  
Lysosomal Disease ◽  
Juvenile Form ◽  
Progressive Encephalopathy ◽  
Lysosomal Diseases

There are four lysosomal diseases of which the neuronal ceroid lipofuscinosis is the rarest. The clinical presentation and their characteric abnormal ultrastructure subdivide them into four types. These are known as the Infantile form (Santavuori-Haltia), Late infantile form (Jansky-Bielschowsky), Juvenile form (Batten-Spielmeyer-Voght) and the Adult form (Kuph's).An 8 year old Omani girl presented wth myclonic jerks since the age of 4 years, with progressive encephalopathy, mental retardation, ataxia and loss of vision. An ophthalmoscopy was performed followed by rectal suction biopsies (fig. 1). A previous sibling had died of an undiagnosed neurological disorder with a similar clinical picture.

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