Chromosome 10p11.2-p12.2 duplication: report of a patient and review of the literature.
We report on a young male with mental retardation, slightly upslanting palpebral fissures, strabismus, high-arched palate, retrognathia, and flat feet. Cytogenetic analysis in addition to fluorescent in situ hybridization (FISH) and comparative genomic hybridization (CGH) showed the presence of a chromosome 10p11.2-->p12.2 duplication. Karyotypes of the parents were normal. Comparison of the clinical findings observed in the present patient with those observed in other reported cases with duplication 10p suggest that the presence of high arched/cleft palate and retrognathia may be related to the 10p11.2-->p12.2 duplication. Also, no critical region for the trisomy 10p syndrome has been delimited.
Mégarbané
A
A
Unité de Génétique Médicale, Laboratoire de Biologie Moléculaire et Cytogénétique, Faculté de Médecine, Université Saint-Joseph, Beirut, Lebanon. megarban@dm.net.lb
Gosset
P
P
Souraty
N
N
Lapierre
J M
JM
Korban
R
R
Zahed
L
L
Samaras
L
L
Vekemans
M
M
Prieur
M
M
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D000328:Adult; D002869:Chromosome Aberrations; D002871:Chromosome Banding; D002879:Chromosomes, Human, Pair 10 / Q000235:genetics*; D005413:Flatfoot; D020440:Gene Duplication; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008607:Intellectual Disability; D007621:Karyotyping; D008297:Male; D010159:Palate / Q000002:abnormalities; D063173:Retrognathia