Partial trisomy 9q syndrome with a de novo tandem duplication of 9q22.2-q31.1

G E Utine; C Melotte; J R Vermeesch; J P Fryns

Partial trisomy 9q syndrome with a de novo tandem duplication of 9q22.2-q31.1

Genet Couns. 2005;16(4):407-12.

Authors

G E Utine¹, C Melotte, J R Vermeesch, J P Fryns

Affiliation

¹ Department of Pediatrics, Division of Genetics, Hacettepe University, Ankara, Turkey.

PMID: 16440884

Abstract

A female with a de novo tandem duplication of 9q22.2-q31.1 is presented. Molecular delineation of the breakpoints was made by microarray CGH and fluorescent in situ hybridisation. Involvement of 9q22.2-q31.1 seems to be sufficient to produce the characteristic phenotype of partial trisomy 9q syndrome. A discussion on the recognizable clinical features of the condition is presented.

Publication types

Case Reports

MeSH terms

Adolescent
Chromosomes, Human, Pair 9 / genetics*
Cytogenetics / methods
Female
Gene Duplication*
Humans
In Situ Hybridization, Fluorescence
Oligonucleotide Array Sequence Analysis / methods
Tandem Repeat Sequences / genetics*
Trisomy / genetics*