Interstitial deletion 13q31 associated with normal phenotype: Cytogenetic study of a family with concomitant segregation of reciprocal translocation and interstitial deletion

Gain or loss of a fragment in human chromosomes has been associated with abnormal phenotypes in numerous genetic disorders. However, it is also possible that lack or excess of a particular chromosomal segment is a neutral polymorphism among populations and thus does not cause obvious abnormal phenotype. In this study, conventional GTG-banded karyotyping and molecular cytogenetic analyses (including fluorescence in situ hybridization, spectral karyotyping and comparative genomic hybridization) were applied to study the genotype-phenotype correlation in a Taiwanese family, in which a concomitant segregation of del(13)(q31q31) interstitial deletion and t(13;18)(q32;p11.2) reciprocal translocation in a 2-year-old girl (the proband) was noticed. Two family members (the father and grandmother of the proband) who carried the del(13) (q3lq3l) but not the translocation t(I 3; 18) both revealed a normal phenotype at adulthood. The finding, which appears novel, that interstitial deletion 13q3l could be associated with a normal phenotype, is therefore valuable in genetic counseling.