TY - JOUR
T1 - Delineation of the proximal 3q microdeletion syndrome
AU - Simovich, Marcia J.
AU - Bland, Steven D.
AU - Peiffer, Daniel A.
AU - Gunderson, Kevin L.
AU - Sau, Wai Cheung
AU - Yatsenko, Svetlana A.
AU - Shinawi, Marwan
PY - 2008/7/1
Y1 - 2008/7/1
N2 - Interstitial deletions of the proximal long arm of chromosome 3 are very rare and a defined clinical phenotype is not established yet. We report on the clinical, cytogenetic and molecular findings of a 20-month-old Hispanic male with a 2.5 Mb de novo deletion on q13.11q13.12. Up to now, this is the smallest deletion reported among patients with the proximal 3q microdeletion syndrome. The patient has distinct facial features including brachycephaly, broad and prominent forehead, flat nasal bridge, prominent ears, anteverted nose, tetralogy of Fallot, bilateral cryptorchidism, and peripheral skeletal abnormalities. To further delineate the proximal 3q deletion syndrome, the phenotype of our patient was compared with 10 other patients previously described. We found that ALCAM and CBLB are the only genes deleted in our patient and based on previously published data, we propose that the CBLB gene is responsible for the craniofacial phenotype in patients with deletions of proximal 3q region.
AB - Interstitial deletions of the proximal long arm of chromosome 3 are very rare and a defined clinical phenotype is not established yet. We report on the clinical, cytogenetic and molecular findings of a 20-month-old Hispanic male with a 2.5 Mb de novo deletion on q13.11q13.12. Up to now, this is the smallest deletion reported among patients with the proximal 3q microdeletion syndrome. The patient has distinct facial features including brachycephaly, broad and prominent forehead, flat nasal bridge, prominent ears, anteverted nose, tetralogy of Fallot, bilateral cryptorchidism, and peripheral skeletal abnormalities. To further delineate the proximal 3q deletion syndrome, the phenotype of our patient was compared with 10 other patients previously described. We found that ALCAM and CBLB are the only genes deleted in our patient and based on previously published data, we propose that the CBLB gene is responsible for the craniofacial phenotype in patients with deletions of proximal 3q region.
KW - 3q13 deletion
KW - ALCAM
KW - Array-CGH
KW - CBLB
KW - Chromosome rearrangement
UR - http://www.scopus.com/inward/record.url?scp=47149108282&partnerID=8YFLogxK
U2 - 10.1002/ajmg.a.32292
DO - 10.1002/ajmg.a.32292
M3 - Article
C2 - 18536049
AN - SCOPUS:47149108282
SN - 1552-4825
VL - 146
SP - 1729
EP - 1735
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
IS - 13
ER -