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1: Am J Med Genet A. 2003 Apr 30;118A(3):290-2.Click here to read Links

New heritable fragile site at 15q13 in both members of a nonconsanguineous couple.

Karadeniz NN, Tunca Y, Imirzalioğlu N.

Dr Zekai Tahir Burak Woman Hospital, Department of Medical Genetics, Hamamönü-Ankara, Türkiye. trkaradeniz@hotmail.com

The detection of a fragile site in a patient often causes concerns due to its potential significance and the necessity to be followed-up properly with genetic counseling. Here we present a new heritable fragile site at 15q13, which was spontaneously expressed at a high frequency in lymphocytes culture of both members of a nonconsanguineous couple with recurrent abortions. The fragile site was not detected in the parents of the female, while the male had inherited it from his father. The fragile site was seen > or =85% of cells in all the carriers. To the best of our knowledge, the presence of this fragile site is being described for the first time under different culture conditions. While it looks like the fragile site is harmless in all carriers, having heterozygosity in the couple may lead to homozygous offspring that could result in fetal loss. Copyright 2003 Wiley-Liss, Inc.

PMID: 12673662 [PubMed - indexed for MEDLINE]