Interstitial deletion of 7q31.32 → q33 secondary to a paracentric inversion of a maternal chromosome 7.
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.
Clinical Genetics, Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA) and Complexo Hospitalar Santa Casa de Porto Alegre (CHSCPA), RS, Brazil.
Giorgio Adriano
GA
Paskulin
Mariluce
M
Riegel
Rafael Fabiano
RF
Machado Rosa
Carla
C
Graziadio
Paulo Ricardo
PR
Gazzola Zen
D000015:Abnormalities, Multiple; D002872:Chromosome Deletion; D007446:Chromosome Inversion; D002897:Chromosomes, Human, Pair 7; D005260:Female; D006801:Humans; D007223:Infant; D009035:Mothers; D017689:Polydactyly; D035583:Rare Diseases / Q000235:genetics