Subtelomeric FISH analysis in 76 patients with syndromic developmental delay/intellectual disability.
BACKGROUND
Intellectual disability affects approximately 1 to 3% of the general population. The etiology is still poorly understood and it is estimated that one-half of the cases are due to genetic factors. Cryptic subtelomeric aberrations have been found in roughly 5 to 7% of all cases.


METHODS
We performed a subtelomeric FISH analysis on 76 unrelated children with normal standard karyotype ascertained by developmental delay or intellectual disability, associated with congenital malformations, and/or facial dysmorphisms.


RESULTS
Ten cryptic chromosomal anomalies have been identified in the whole cohort (13,16%), 8 in the group of patients characterized by developmental delay or intellectual disability associated with congenital malformations and facial dysmorphisms, 2 in patients with developmental delay or intellectual disability and facial dysmorphisms only.


CONCLUSIONS
We demonstrate that a careful clinical examination is a very useful tool for pre-selection of patients for genomic analysis, clearly enhancing the chromosomal anomaly detection rate. Clinical features of most of these patients are consistent with the corresponding emerging chromosome phenotypes, pointing out these new clinical syndromes associated with specific genomic imbalances.
Belligni
Elga F
EF
Dipartimento di Scienze Pediatriche, University of Torino, Torino, Italy. margherita.cirillosilengo@unito.it.
Biamino
Elisa
E
Molinatto
Cristina
C
Messa
Jole
J
Pierluigi
Mauro
M
Faravelli
Francesca
F
Zuffardi
Orsetta
O
Ferrero
Giovanni B
GB
Silengo
Margherita Cirillo
MC