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Duplication of 9 p11.2‐p13.1: a benign cytogenetic variant
Author(s) -
Di Giacomo Marilena C.,
Cesarano Carla,
Bukvic Nenad,
Manisali Evangelia,
Guanti Ginevra,
Susca Francesco
Publication year - 2004
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.931
Subject(s) - gene duplication , breakpoint , fluorescence in situ hybridization , biology , genetics , prenatal diagnosis , chromosomal rearrangement , cytogenetics , gene rearrangement , phenotype , comparative genomic hybridization , chromosome , karyotype , gene , fetus , pregnancy
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. Copyright © 2004 John Wiley & Sons, Ltd.