A patient with duplication (7)(p22.1pter) characterized by array-CGH.
Approximately 40 patients with terminal duplication of the distal short arm of chromosome 7 have been reported, the smallest being dup(7)(p21). We report here on a patient with a smaller duplication, dup(7)(p22.1), detected on G-banding and characterized by array-CGH. We establish phenotype-karyotype correlations with the reported patients with other 7p duplications.
Zahed
Laila
L
Department of Pathology and Laboratory Medicine, American University of Beirut Medical Center, Beirut, Lebanon. lailaz@aub.edu.lb
Pramparo
Tiziano
T
Farra
Chantal
C
Mikati
Mohammad
M
Zuffardi
Orsetta
O
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology*; D002871:Chromosome Banding / Q000379:methods; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics*; D019465:Craniofacial Abnormalities / Q000235:genetics / Q000473:pathology; D020440:Gene Duplication; D006801:Humans; D007223:Infant; D007230:Infant, Low Birth Weight; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics / Q000473:pathology; D007621:Karyotyping; D008297:Male; D009693:Nucleic Acid Hybridization / Q000379:methods; D010641:Phenotype