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Title: Mesomelic form of chondrodysplasia and congenital glaucoma associated with de novo translocation (13;18)(q14;q23)
Authors: Dimitrov, Boyan ×
Devriendt, Koenraad
Maas, Nicole
Vermeesch, Joris
Zahariev, D
Avdjieva, D
Popova, A
Popova, D A A
Fryns, Jean-Pierre
Simeonov, E #
Issue Date: Aug-2004
Publisher: Edition médicine et hygiène
Series Title: Genetic Counseling vol:15 issue:2 pages:191-7
Abstract: Mesomelic form of chondrodysplasia and congenital glaucoma associated with de novo translocation (13;18)(q14:q23): Mesomelic dysplasias are characterized by limb shortening most prominent of the middle segment of the extremities (forearm and lower leg). In addition to several syndromic forms a few patients with sporadic or familial forms and without precise nosological classification have been reported so far. In this report we present a young female with disproportionate mesomelic dwarfism, dysmorphic facial features, bilateral glaucoma, patent ductus arteriosus, low and hoarse voice, and generalized muscular hypotonia. At the age of 2.5 years mental development is normal. High resolution G-banded chromosome studies revealed a de novo reciprocal translocation with karyotype 46,XX t (13;18)(q14;q23). The concurrence of this de novo autosomal translocation with this distinct phenotype supports the hypothesis that disruption of (a) gene(s) at the translocation breakpoints causes this unusual, apparently new form of skeletal chondrodysplasia.
ISSN: 1015-8146
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Clinical Genetics Section (-)
Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

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