Mesomelic form of chondrodysplasia and congenital glaucoma associated with de novo translocation (13;18)(q14;q23).
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.
Dimitrov
B
B
University Pediatric Hospital, Clinical Genetics Unit, Department of Pediatrics, Medical University Sofia, Bulgaria.
Devriendt
K
K
Maas
N M C
NM
Vermeesch
J R
JR
Zahariev
D
D
Avdjieva
D
D
Popova
A
A
Popova
D A A
DA
Fryns
J P
JP
Simeonov
E
E
D000015:Abnormalities, Multiple / Q000235:genetics*; D002882:Chromosomes, Human, Pair 13; D002887:Chromosomes, Human, Pair 18; D003937:Diagnosis, Differential; D005260:Female; D005901:Glaucoma / Q000151:congenital* / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D010009:Osteochondrodysplasias / Q000175:diagnosis / Q000235:genetics*; D014178:Translocation, Genetic