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Unbalanced form of translocation deletion between chromosomes 6 and 22 in a mentally handicapped female [45,XX,-6,-22,+der(6),t(6;22) (q25.1:q11.2)].

Authors :
Jancar, J.
Karki, C. B.
Source :
Journal of Mental Deficiency Research; Jun1989, Vol. 33 Issue 3, p255-259, 5p
Publication Year :
1989

Abstract

The article presents the case report of a mentally handicapped female with unbalanced form of translocation deletion between chromosomes 6 and 22. Her general appearance is rather masculine. She is microcephalic, with a sloping short forehead, some bossing of frontal bones and flattened occiput with a low hairline. Orbital ridges are prominent with bushy eyebrows meeting at the mid-line. The clinical manifestations in this patient appear to be the result of partial deletion of the long arm of chromosome 6.

Details

Language :
English
ISSN :
0022264X
Volume :
33
Issue :
3
Database :
Supplemental Index
Journal :
Journal of Mental Deficiency Research
Publication Type :
Academic Journal
Accession number :
17452026
Full Text :
https://doi.org/10.1111/j.1365-2788.1989.tb01473.x