Delineation of the proximal 3q microdeletion syndrome.
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.
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA. mshinawi@bcm.tmc.edu
Marcia J
MJ
Simovich
Steven D
SD
Bland
Daniel A
DA
Peiffer
Kevin L
KL
Gunderson
Sau Wai
SW
Cheung
Svetlana A
SA
Yatsenko
Marwan
M
Shinawi
D000015:Abnormalities, Multiple / Q000235:genetics*; D002872:Chromosome Deletion; D002893:Chromosomes, Human, Pair 3 / Q000235:genetics*; D019465:Craniofacial Abnormalities / Q000150:complications / Q000235:genetics*; D005260:Female; D018628:Gene Dosage; D006330:Heart Defects, Congenital / Q000150:complications / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D020411:Oligonucleotide Array Sequence Analysis; D010641:Phenotype; D013577:Syndrome