|Title:||Interstitial Deletion 13q31 Associated with Normal Phenotype: Cytogenetic Study of a Family with Concomitant Segregation of Reciprocal Translocation and Interstitial Deletion||Authors:||李美慧
|Keywords:||comparative genomic hybridization;fluorescence in situ hybridization;interstitial deletion 13q;spectral karyotyping||Issue Date:||2007||Journal Volume:||v.106||Journal Issue:||n.7||Start page/Pages:||582-588||Source:||JOURNAL OF THE FORMOSAN MEDICAL ASSOCIATION||Abstract:||
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 13 q3l could be associated with a normal phenotype, is therefore valuable in genetic counseling.
|Appears in Collections:||醫學系|
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