De novo inverted duplication of chromosome 7(q21.3-->q35): cytogenetic diagnosis confirmed by FISH analysis

E Back; R Toder; A Fuchshuber

doi:10.1034/j.1399-0004.2001.600113.x

De novo inverted duplication of chromosome 7(q21.3-->q35): cytogenetic diagnosis confirmed by FISH analysis

Clin Genet. 2001 Jul;60(1):77-82. doi: 10.1034/j.1399-0004.2001.600113.x.

Authors

E Back¹, R Toder, A Fuchshuber

Affiliation

¹ Institut für Humangenetik und Anthropologie der Universität, Breisacher Str. 33, D-79106 Freiburg, Germany. elkeback@humangenetik.ukl.uni-freiburg.de

PMID: 11531975
DOI: 10.1034/j.1399-0004.2001.600113.x

Abstract

We report on a newborn female patient with a de novo pure partial duplication of 7q. The clinical features are compared with those of 19 cases from the literature with pure partial duplication of different segments of 7q. Conventional cytogenetic investigation led to the diagnosis of duplication of bands q21.3 to q35. This was confirmed by chromosome painting and by fluorescence in situ hybridization with different YAC probes from the duplicated region.

Publication types

Case Reports
Review

MeSH terms

Child, Preschool
Chromosome Aberrations*
Chromosome Banding
Chromosomes, Human, Pair 7 / genetics*
Cytogenetic Analysis
Fatal Outcome
Female
Gene Duplication
Humans
In Situ Hybridization, Fluorescence
Infant