Interstitial deletion of 7q31.32 → q33 secondary to a paracentric inversion of a maternal chromosome 7

Giorgio Adriano Paskulin; Mariluce Riegel; Rafael Fabiano Machado Rosa; Carla Graziadio; Paulo Ricardo Gazzola Zen

doi:10.1016/j.ejmg.2010.10.012

Interstitial deletion of 7q31.32 → q33 secondary to a paracentric inversion of a maternal chromosome 7

Eur J Med Genet. 2011 Mar-Apr;54(2):181-5. doi: 10.1016/j.ejmg.2010.10.012. Epub 2010 Nov 5.

Authors

Giorgio Adriano Paskulin¹, Mariluce Riegel, Rafael Fabiano Machado Rosa, Carla Graziadio, Paulo Ricardo Gazzola Zen

Affiliation

¹ Clinical Genetics, Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA) and Complexo Hospitalar Santa Casa de Porto Alegre (CHSCPA), RS, Brazil.

PMID: 21056704
DOI: 10.1016/j.ejmg.2010.10.012

Abstract

Carriers of paracentric inversions (PAIs) are usually asymptomatic. However, such inversions may lead to the formation of recombinant gametes and then to an abnormal gestation. Here we report a girl with a 7q31.32 → q33 deletion secondary to a maternal PAI of chromosome 7. This finding was confirmed through FISH and whole-genome array-CGH analyses. The deficiency of the chromosome 7 observed in our patient was never described before and we did not find any known gene localized within the deficient segment that could be related to her findings of hypoplastic iliac bones, hypoplastic labia minora and postaxial polydactyly. This case highlights the fact that rare viable recombinants can be developed from PAIs, an issue that must be discussed in the genetic counseling.

Publication types

Case Reports

MeSH terms

Abnormalities, Multiple
Chromosome Deletion*
Chromosome Inversion*
Chromosomes, Human, Pair 7*
Female
Humans
Infant
Mothers
Polydactyly
Rare Diseases / genetics