TY - JOUR
T1 - Deletion 2p15-16.1 syndrome
T2 - Case report and review
AU - Prontera, Paolo
AU - Bernardini, Laura
AU - Stangoni, Gabriela
AU - Capalbo, Anna
AU - Rogaia, Daniela
AU - Romani, Rita
AU - Ardisia, Carmela
AU - Dallapiccola, Bruno
AU - Donti, Emilio
PY - 2011/10
Y1 - 2011/10
N2 - We report on a 9-year-old female patient with facial anomalies and developmental delay, heterozygous for three de novo rearrangements: a paracentric inversion of chromosome 7, an apparently balanced translocation between chromosome 1 and 7, involving the same inverted chromosome 7, detected by standard cytogenetic analysis [46,XX, der(7) inv(7)(q21.1q32.1)t(1;7)(q23q32.1)]; and a 2p16.1 deletion, spanning about 3.5Mb of genomic DNA, shown by SNP-array analysis [arr 2p16.1 (56,706,666-60,234,485)x1 dn]. Clinical features and cytogenetic imbalance in our patient were similar to those reported in five published cases, suggesting that this genomic region is prone to recombination and its hemizygosity results in a distinct although variable spectrum of clinical manifestations.
AB - We report on a 9-year-old female patient with facial anomalies and developmental delay, heterozygous for three de novo rearrangements: a paracentric inversion of chromosome 7, an apparently balanced translocation between chromosome 1 and 7, involving the same inverted chromosome 7, detected by standard cytogenetic analysis [46,XX, der(7) inv(7)(q21.1q32.1)t(1;7)(q23q32.1)]; and a 2p16.1 deletion, spanning about 3.5Mb of genomic DNA, shown by SNP-array analysis [arr 2p16.1 (56,706,666-60,234,485)x1 dn]. Clinical features and cytogenetic imbalance in our patient were similar to those reported in five published cases, suggesting that this genomic region is prone to recombination and its hemizygosity results in a distinct although variable spectrum of clinical manifestations.
KW - 2p16.1 microdeletion
KW - Autism
KW - FANCL
KW - Intellectual disability
KW - Optic nerve hypoplasia
KW - Review
KW - SNP-array
KW - VRK2
UR - http://www.scopus.com/inward/record.url?scp=80053112331&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=80053112331&partnerID=8YFLogxK
U2 - 10.1002/ajmg.a.33875
DO - 10.1002/ajmg.a.33875
M3 - Article
C2 - 21910216
AN - SCOPUS:80053112331
VL - 155
SP - 2473
EP - 2478
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
SN - 1552-4825
IS - 10
ER -