Subtelomeric microduplications in three sisters with moderate mental retardation.
Copy number changes of subtelomeric regions are a common cause of mental retardation, occurring in approximately 5% of mentally retarded patients. New molecular techniques allow the identification of subtelomeric microduplications. We report a Tunisian family of three sisters with moderate mental retardation, facial dysmorphism, cardiopathy, and bilateral clinodactyly of the third and fourth toes, explored by MLPA, showing the same associated microduplications, 15q and Xq, without a concurrent deletion.
Hila
Lamia
L
Faculté de Médecine de Tunis, Laboratoire de Génétique Humaine, Tunisia. lamia_hila@yahoo.fr
Tébourbi
Hedia
H
Abeid
Leila
L
Rejeb
Imen
I
Chaabouni
Habiba
H
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000503:physiopathology; D044383:Black People; D002869:Chromosome Aberrations; D002884:Chromosomes, Human, Pair 15; D041321:Chromosomes, Human, X; D019066:Facies; D005260:Female; D018628:Gene Dosage; D005820:Genetic Testing; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics* / Q000503:physiopathology; D008875:Middle Aged; D021141:Nucleic Acid Amplification Techniques; D010641:Phenotype; D016615:Telomere / Q000235:genetics*; D014416:Tunisia