Subtelomeric deletion of 18p in an adult with paranoid schizophrenia and mental retardation

2003 ◽  
Vol 124A (3) ◽  
pp. 318-322 ◽  
Author(s):  
Dusica Babovic-Vuksanovic ◽  
S.C. Jenkins ◽  
R. Ensenauer ◽  
D.C. Newman ◽  
S.M. Jalal
Keyword(s):  
Mental Retardation ◽  
Paranoid Schizophrenia ◽  
Subtelomeric Deletion

Interstitial 2.2 Mb deletion at 9q34 in a patient with mental retardation but without classical features of the 9q subtelomeric deletion syndrome

2006 ◽  
Vol 140A (6) ◽  
pp. 618-623 ◽  
Author(s):  
Tjitske Kleefstra ◽  
David A. Koolen ◽  
Willy M. Nillesen ◽  
Nicole de Leeuw ◽  
Ben C.J. Hamel ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Deletion Syndrome ◽  
Subtelomeric Deletion

scholarly journals A 4q35.2 subtelomeric deletion identified in a screen of patients with co-morbid psychiatric illness and mental retardation

2004 ◽  
Vol 5 (1) ◽  
Author(s):  
Ben S Pickard ◽  
Edward J Hollox ◽  
M Pat Malloy ◽  
David J Porteous ◽  
Douglas HR Blackwood ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Psychiatric Illness ◽  
Subtelomeric Deletion

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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