TY - JOUR
T1 - Routine cytogenetic and FISH studies for 17p11/15q11 duplications and subtelomeric rearrangement studies in children with autism spectrum disorders
AU - Keller, Kory
AU - Williams, Charles
AU - Wharton, Paul
AU - Paulk, Martha
AU - Bent-Williams, Angela
AU - Gray, Brian
AU - Ward, Angie
AU - Stalker, Heather
AU - Wallace, Margaret
AU - Carter, Randy
AU - Zori, Roberto
PY - 2003/3/1
Y1 - 2003/3/1
N2 - To assess the frequency of cytogenetic abnormalities in children with autism spectrum disorders (ASDs), routine G-banded cytogenetic analyses and FISH studies to rule out 15q11.2 and 17p11.2 duplications were performed on 49 children with ASDs. Blood samples were further studied using a complete set of subtelomeric FISH probes. Routine chromosome study showed that one child had a small duplication of chromosome 5: 46,XY,dup(5)(p?14.2p?15.1). Another child had an interstitial duplication of the Prader-Willi and Angelman syndrome critical region of chromosome 15, detected by FISH analysis. The detection of these two cases underscores the importance of obtaining routine chromosome and 15q11-q13 FISH analyses in children with ASDs. No instance of 17p11.2 duplication was observed. Subtelomeric analysis did not reveal abnormalities in any of the subjects.
AB - To assess the frequency of cytogenetic abnormalities in children with autism spectrum disorders (ASDs), routine G-banded cytogenetic analyses and FISH studies to rule out 15q11.2 and 17p11.2 duplications were performed on 49 children with ASDs. Blood samples were further studied using a complete set of subtelomeric FISH probes. Routine chromosome study showed that one child had a small duplication of chromosome 5: 46,XY,dup(5)(p?14.2p?15.1). Another child had an interstitial duplication of the Prader-Willi and Angelman syndrome critical region of chromosome 15, detected by FISH analysis. The detection of these two cases underscores the importance of obtaining routine chromosome and 15q11-q13 FISH analyses in children with ASDs. No instance of 17p11.2 duplication was observed. Subtelomeric analysis did not reveal abnormalities in any of the subjects.
KW - Autism
KW - Autism spectrum disorder
KW - Cytogenetic analysis
KW - Dup (17)(p11.2)
KW - Dup (5)p, dup (15)(q11-13)
KW - Telomere
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U2 - 10.1002/ajmg.a.10042
DO - 10.1002/ajmg.a.10042
M3 - Article
C2 - 12567405
AN - SCOPUS:0041413297
SN - 1552-4825
VL - 117 A
SP - 105
EP - 111
JO - American Journal of Medical Genetics
JF - American Journal of Medical Genetics
IS - 2
ER -