ITEM METADATA RECORD
Title: 13q deletion syndrome in an adult mentally retarded patient
Authors: Van Buggenhout, Griet ×
Trommelen, J
Hamel, B
Fryns, Jean-Pierre #
Issue Date: 1999
Series Title: Genetic Counseling vol:10 issue:2 pages:177-81
Abstract: Clinical features of the 13q deletion syndrome are difficult to define and include retinoblastoma, mental and growth retardation, craniofacial abnormalities, brain, gastrointestinal, renal and heart malformations, anal atresia and limb and digit malformations. The critical region for development of major organ systems has been defined in 13q32 between the proximal marker 13S132 and distal marker D13S147. We report a severely mentally retarded male patient with a deletion of the distal part of chromosome 13 (13q32.3-->qter) without major organ malformations.
ISSN: 1015-8146
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Department of Human Genetics - miscellaneous
Clinical Genetics
Clinical Genetics Section (-)
× corresponding author
# (joint) last author

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