Duplication of 9 p11.2-p13.1: a benign cytogenetic variant.
The detection of very rare variants in prenatal diagnosis often causes counseling difficulties and anxiety in parents. We describe a duplication of the proximal region of chromosome 9 short arm in two cases of prenatal diagnosis and in one young woman, with evidence that such rearrangement is an uncommon variant. The duplication was investigated using Fluorescence in situ hybridization (FISH). Although the cytogenetic findings were indicative of a 'duplication 9p syndrome' associated with mental and developmental retardation, we were able to demonstrate that the rearrangement was a heteromorphism with no phenotypic consequence. We also determined the breakpoint regions of the rearrangement and identified the BAC probes that precisely define the duplicated region devoid of risk of phenotypic effects.
Sezione di Genetica Medica, DIMIMP, Università di Bari, Bari, Italia.
Marilena C
MC
Di Giacomo
Carla
C
Cesarano
Nenad
N
Bukvic
Evangelia
E
Manisali
Ginevra
G
Guanti
Francesco
F
Susca
D000328:Adult; D000649:Amniocentesis; D002871:Chromosome Banding; D002899:Chromosomes, Human, Pair 9 / Q000235:genetics*; D005260:Female; D020440:Gene Duplication; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D008297:Male; D008423:Maternal Age; D010641:Phenotype; D011247:Pregnancy