Chromosome 7q22-q31 duplication: report of a new case and review.
We report on a girl with psychomotor retardation, growth retardation, microcephaly, frontal bossing, large ears, small nose, high arched and narrow palate, short neck, and generalized hirsutism. Cytogenetic analysis in addition to fluorescent in situ hybridization (FISH) and comparative genomic hybridization (CGH) showed the presence of a chromosome 7q22-->q31.3 duplication. Comparison with other reported cases shows some resemblance but insufficient to enable us to establish a definite syndrome with specific clinical manifestations. The importance in better analyzing further cases by new molecular cytogenetics techniques is raised.
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
Turleau
C
C
Vekemans
M
M
Loiselet
J
J
Prieur
M
M
D002648:Child; D002871:Chromosome Banding; D020223:Chromosome Painting; D002897:Chromosomes, Human, Pair 7; D019066:Facies; D005260:Female; D020440:Gene Duplication; D006130:Growth Disorders / Q000175:diagnosis* / Q000235:genetics*; D006628:Hirsutism / Q000175:diagnosis / Q000235:genetics; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008607:Intellectual Disability / Q000175:diagnosis* / Q000235:genetics*; D007621:Karyotyping; D018895:Microsatellite Repeats; D009693:Nucleic Acid Hybridization; D010641:Phenotype; D013577:Syndrome