Interstitial deletion of 7q31.32 → q33 secondary to a paracentric inversion of a maternal chromosome 7. 2011

Giorgio Adriano Paskulin, and Mariluce Riegel, and Rafael Fabiano Machado Rosa, and Carla Graziadio, and Paulo Ricardo Gazzola Zen
Clinical Genetics, Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA) and Complexo Hospitalar Santa Casa de Porto Alegre (CHSCPA), RS, Brazil.

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.

UI MeSH Term Description Entries
D007223 Infant A child between 1 and 23 months of age. Infants
D007446 Chromosome Inversion An aberration in which a chromosomal segment is deleted and reinserted in the same place but turned 180 degrees from its original orientation, so that the gene sequence for the segment is reversed with respect to that of the rest of the chromosome. Inversion, Chromosome,Inversion, Chromosomal,Chromosomal Inversion,Chromosomal Inversions,Chromosome Inversions,Inversions, Chromosomal,Inversions, Chromosome
D009035 Mothers Female parents, human or animal. Mothers' Clubs,Club, Mothers',Clubs, Mothers',Mother,Mother Clubs,Mother's Clubs,Mothers Clubs,Mothers' Club
D002872 Chromosome Deletion Actual loss of portion of a chromosome. Monosomy, Partial,Partial Monosomy,Deletion, Chromosome,Deletions, Chromosome,Monosomies, Partial,Partial Monosomies
D002897 Chromosomes, Human, Pair 7 A specific pair of GROUP C CHROMOSOMES of the human chromosome classification. Chromosome 7
D005260 Female Females
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000015 Abnormalities, Multiple Congenital abnormalities that affect more than one organ or body structure. Multiple Abnormalities
D017689 Polydactyly A congenital anomaly of the hand or foot, marked by the presence of supernumerary digits. Hyperdactyly,Polydactylia,Polydactylism,Hyperdactylies,Polydactylias,Polydactylies,Polydactylisms
D035583 Rare Diseases A large group of diseases which are characterized by a low prevalence in the population. They frequently are associated with problems in diagnosis and treatment. Orphan Diseases,Disease, Orphan,Disease, Rare,Orphan Disease,Rare Disease

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