A submicroscopic unbalanced subtelomeric translocation t(2p;10q) identified by fluorescence in situ hybridization: fetus with increased nuchal translucency and normal standard karyotype with later growth and developmental delay, rhombencephalosynapsis (RES).
Reaching an accurate diagnosis in children with mental retardation associated or not with dysmorphic signs is important to make precise diagnosis of a syndrome and for genetic counseling. A female case with severe growth and development delay, dysmorphic features and feeding disorder is presented. Antenataly, the fetus was observed to have increased nuchal translucency and a slight hypoplastic cerebellum. A standard karyotype was normal. RES and a submicroscopic unbalanced subtelomeric translocation t(2p; 10q) were demonstrated after birth. We show that within the framework of a collaborative approach, a concerted research of submicroscopic subtelomeric rearrangements should be performed in case of mental retardation associated with facial dysmorphic features, and when other etiologies or non-genetic factors (iatrogenic, toxic, infectious, metabolic...) have been ruled out.
Lespinasse
J
J
Cytogenetic Laboratory, General Hospital, BP 1125, 73011 Chambéry cedex, France. james.lespinasse@ch-chambery.rss.fr <james.lespinasse@ch-chambery.rss.fr>
Testard
H
H
Nugues
F
F
Till
M
M
Cordier
M P
MP
Althuser
M
M
Amblard
F
F
Fert-Ferrer
S
S
Durand
C
C
Dalmon
F
F
Pourcel
C
C
Jouk
P S
PS
D002531:Cerebellum / Q000002:abnormalities; D002657:Child Development; D002675:Child, Preschool; D002871:Chromosome Banding; D025063:Chromosome Disorders / Q000235:genetics*; D002879:Chromosomes, Human, Pair 10; D002889:Chromosomes, Human, Pair 2; D001068:Feeding and Eating Disorders / Q000235:genetics; D005260:Female; D005333:Fetus / Q000002:abnormalities; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D008607:Intellectual Disability / Q000097:blood / Q000235:genetics*; D007621:Karyotyping; D008279:Magnetic Resonance Imaging; D048208:Nuchal Translucency Measurement; D012249:Rhombencephalon / Q000002:abnormalities*; D016615:Telomere / Q000235:genetics; D014178:Translocation, Genetic