Terminal 14q32.33 deletion: genotype-phenotype correlation.
We report on a female infant presenting with psychomotor retardation and facial dysmorphism. Cytogenetic studies showed an abnormal chromosome 14 with ectopic NOR sequences at the extremity of the long arm with a terminal 14q32.33 deletion. Review of the eight cases with pure terminal 14q32.3 deletions described to date documented that our observation is the smallest terminal 14q deletion ever reported. Thus, genotype-phenotype correlation allows us to delimit the critical region for mental retardation, hypotonia, epi-telecanthus, short bulbous nose, long philtrum, thin upper lip, and small mouth observed in 14 qter deletions to the subtelomeric 1.6 Mb of chromosome 14.
Maurin
M-L
ML
Service d'Histologie Embryologie Cytogénétique APHP, INSERM U782, Hôpital Antoine Béclère, Clamart, France. marie-laure.maurin@abc.aphp.fr
Brisset
S
S
Le Lorc'h
M
M
Poncet
V
V
Trioche
P
P
Aboura
A
A
Labrune
P
P
Tachdjian
G
G
D001921:Brain / Q000002:abnormalities; D002675:Child, Preschool; D002872:Chromosome Deletion; D002883:Chromosomes, Human, Pair 14 / Q000235:genetics*; D019465:Craniofacial Abnormalities / Q000235:genetics; D003582:Cytogenetics; D005260:Female; D005838:Genotype; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics; D009123:Muscle Hypotonia / Q000235:genetics; D009216:Myopia / Q000235:genetics; D010641:Phenotype