Discovery of a previously unrecognized microdeletion syndrome of 16p11.2-p12.2.
We have identified a recurrent de novo pericentromeric deletion in 16p11.2-p12.2 in four individuals with developmental disabilities by microarray-based comparative genomic hybridization analysis. The identification of common clinical features in these four individuals along with the characterization of complex segmental duplications flanking the deletion regions suggests that nonallelic homologous recombination mediated these rearrangements and that deletions in 16p11.2-p12.2 constitute a previously undescribed syndrome.
Ballif
Blake C
BC
Signature Genomic Laboratories, Spokane, Washington 99202, USA.
Hornor
Sara A
SA
Jenkins
Elizabeth
E
Madan-Khetarpal
Suneeta
S
Surti
Urvashi
U
Jackson
Kelly E
KE
Asamoah
Alexander
A
Brock
Pamela L
PL
Gowans
Gordon C
GC
Conway
Robert L
RL
Graham
John M
JM
Medne
Livija
L
Zackai
Elaine H
EH
Shaikh
Tamim H
TH
Geoghegan
Joel
J
Selzer
Rebecca R
RR
Eis
Peggy S
PS
Bejjani
Bassem A
BA
Shaffer
Lisa G
LG
D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations; D002872:Chromosome Deletion; D025063:Chromosome Disorders / Q000235:genetics / Q000473:pathology; D002885:Chromosomes, Human, Pair 16 / Q000235:genetics*; D005260:Female; D015894:Genome, Human; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D009693:Nucleic Acid Hybridization / Q000379:methods; D013577:Syndrome