Duplication of 9 p11.2-p13.1: a benign cytogenetic variant
- Resource Type
- Authors
- Nenad Bukvic; Ginevra Guanti; Evangelia Manisali; Carla Cesarano; Francesco Susca; Marilena Carmela Di Giacomo
- Source
- Prenatal Diagnosis. 24:619-622
- Subject
- Adult
Male
medicine.medical_specialty
Chromosome 9
Prenatal diagnosis
Biology
Gene mapping
Pregnancy
Gene Duplication
Gene duplication
medicine
Humans
In Situ Hybridization, Fluorescence
Genetics (clinical)
Genetics
medicine.diagnostic_test
Breakpoint
Cytogenetics
Obstetrics and Gynecology
Phenotype
Chromosome Banding
Karyotyping
Amniocentesis
Female
Chromosomes, Human, Pair 9
Maternal Age
Fluorescence in situ hybridization
- Language
- ISSN
- 1097-0223
0197-3851
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.