TY - JOUR
T1 - Molecular cytogenetic characterization of 2p23.2p23.3 deletion in a child with developmental delay, hypotonia and cryptorchism
AU - Rocca, Maria Santa
AU - Faletra, Flavio
AU - Devescovi, Raffaella
AU - Gasparini, Paolo
AU - Pecile, Vanna
PY - 2013/1
Y1 - 2013/1
N2 - Deletions of the short arm of chromosome 2 are exceedingly rare and only nine cases involving regions from 2p23 to 2pter have been reported to date. Most of these deletions had only been analysed by GTG banding. Here, we report an interstitial de novo deletion resulting in a microdeletion of 3.9 Mb involving 2p23.2-p23.3 segment, detected by SNP-array analysis, in a 5 year-old boy showing hypotonia, overweight, dysmorphic facial features and cryptorchidism. We compared the clinical features of the present case to previously described patients with deletions within this chromosomal region. Our case adds new information to the deletion of the distal part of chromosome 2p improving the knowledge on this rearrangement.
AB - Deletions of the short arm of chromosome 2 are exceedingly rare and only nine cases involving regions from 2p23 to 2pter have been reported to date. Most of these deletions had only been analysed by GTG banding. Here, we report an interstitial de novo deletion resulting in a microdeletion of 3.9 Mb involving 2p23.2-p23.3 segment, detected by SNP-array analysis, in a 5 year-old boy showing hypotonia, overweight, dysmorphic facial features and cryptorchidism. We compared the clinical features of the present case to previously described patients with deletions within this chromosomal region. Our case adds new information to the deletion of the distal part of chromosome 2p improving the knowledge on this rearrangement.
KW - Cryptorchidism
KW - Deletion 2p23
KW - DTNB
KW - SNP array
UR - http://www.scopus.com/inward/record.url?scp=84871701218&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84871701218&partnerID=8YFLogxK
U2 - 10.1016/j.ejmg.2012.10.008
DO - 10.1016/j.ejmg.2012.10.008
M3 - Article
C2 - 23142270
AN - SCOPUS:84871701218
VL - 56
SP - 62
EP - 65
JO - European Journal of Medical Genetics
JF - European Journal of Medical Genetics
SN - 1769-7212
IS - 1
ER -