A new heritable fragile site at 15q13 in a three-generation family.

Cytogenet Genome Res

Department of Medical Genetics, Selçuk University, Meram Medical Faculty, Konya, Turkey.

Published: April 2007

AI Article Synopsis

  • A family experiencing recurrent spontaneous abortions was studied and found to have a new heritable fragile site at chromosome 15q13.
  • This fragile site was present in nine individuals across three generations and was highly expressed in their cells, showing up in 88-95% of metaphase preparations.
  • The expression of this fragile site remained consistent even in conditions of folate deficiency.

Article Abstract

Here, we describe a family ascertained through recurrent spontaneous abortions in which a new heritable fragile site located at 15q13 is segregating. The fragile site was present in nine members of a three-generation family and expressed spontaneously in a high proportion of the metaphases varying from 88 to 95% under standard culture conditions in all the carriers. This didn't change under folate deficiency.

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Source
http://dx.doi.org/10.1159/000100408DOI Listing

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