A new heritable fragile site at 15q13 in a three-generation family.
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.
Zamani
A G
AG
Department of Medical Genetics, Selçuk University, Meram Medical Faculty, Konya, Turkey.
Durakbasi-Dursun
H G
HG
Acar
A
A
D000026:Abortion, Habitual / Q000235:genetics*; D000022:Abortion, Spontaneous / Q000235:genetics*; D000328:Adult; D002648:Child; D043283:Chromosome Fragile Sites / Q000235:genetics*; D020090:Chromosome Segregation / Q000235:genetics; D002882:Chromosomes, Human, Pair 13 / Q000235:genetics*; D005260:Female; D005494:Folic Acid Deficiency; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D008677:Metaphase; D010375:Pedigree