Journal of the Formosan Medical Association
Volume 106, Issue 7 , Pages 582-588, 2007

Interstitial Deletion 13q31 Associated with Normal Phenotype: Cytogenetic Study of a Family with Concomitant Segregation of Reciprocal Translocation and Interstitial Deletion

  • Yu-Yuan Ke

      Affiliations

    • Center for Medical Genetics, National Taiwan University, Taipei, Taiwan
    • Department of Pediatrics, Changhua Christian Hospital, Taipei, Taiwan
    • Institute of Medical Research, Chang-Jung Christian University, Changhua, Taipei, Taiwan
    • ,
  • Dong-Jay Lee

      Affiliations

    • Center for Medical Genetics, National Taiwan University, Taipei, Taiwan
    • ,
  • Gwo-Chin Ma

      Affiliations

    • Center for Medical Genetics, National Taiwan University, Taipei, Taiwan
    • Institute of Zoology and Department of Life Science, College of Life Science, National Taiwan University, Taipei, Taiwan
    • ,
  • Mei-Hui Lee

      Affiliations

    • Center for Medical Genetics, National Taiwan University, Taipei, Taiwan
    • ,
  • Bao-Tyan Wang

      Affiliations

    • Center for Medical Genetics, National Taiwan University, Taipei, Taiwan
    • ,
  • Ming Chen

      Affiliations

    • Center for Medical Genetics, National Taiwan University, Taipei, Taiwan
    • Institute of Zoology and Department of Life Science, College of Life Science, National Taiwan University, Taipei, Taiwan
    • Department of Obstetrics and Gynecology, National Taiwan University, Taipei, Taiwan
    • Department of Medical Genetics, College of Medicine and Hospital, National Taiwan University, Taipei, Taiwan
    • Corresponding Author InformationCorrespondence to: Dr Ming Chen, Center for Medical Genetics, Changhua Christian Hospital, Changhua 500, Taiwan

Received 18 May 2006; received in revised form 12 September 2006; accepted 2 January 2007.

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)(q31q31) but not the translocation t(13;18) both revealed a normal phenotype at adulthood. The finding, which appears novel, that interstitial deletion 13q31 could be associated with a normal phenotype, is therefore valuable in genetic counseling.

Key Words:  comparative genomic hybridization , fluorescence in situ hybridization , interstitial deletion 13q , spectral karyotyping

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 Yu-Yuan Ke and Dong-Jay Lee contributed equally to this work.

PII: S0929-6646(07)60010-2

doi:10.1016/S0929-6646(07)60010-2

Journal of the Formosan Medical Association
Volume 106, Issue 7 , Pages 582-588, 2007

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