Spontaneous expression of FRA16B in a non-consanguineous couple experiencing multiple fetal losses.

Abstract

The association between fragile sites and human genetic diseases is still debatable. Although FRAXA and FRAXE have been found to be associated with mental retardation and FRA11B possibly with Jacobsen syndrome, no other autosomal fragile site has yet been found to have a direct correlation with a genetic disorder; however, the frequency of fragile sites in infertile couples has been reported to be higher than in a control group. The occurrence of a fragile site can therefore be a possible risk factor causing considerable anxiety to the clinician and probably requires follow up with appropriate genetic counseling. The present study reports heterozygosity for FRA16B in both partners of an infertile non-consanguineous couple married for 9 years. They had been referred for cytogenetic evaluation with the complaint of multiple fetal losses.

• Authors: Sivasankaran Aswini, Thankanadar Jegatheesan, Nallathambi Chandra
• Journal: The journal of obstetrics and gynaecology research (J Obstet Gynaecol Res) Vol. 38 Issue 9 Pg. 1223-7 (Sep 2012) ISSN: 1447-0756 [Electronic] Australia
• PMID: 22564372 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: © 2012 The Authors. Journal of Obstetrics and Gynaecology Research © 2012 Japan Society of Obstetrics and Gynecology.

Topics

• Abortion, Habitual (genetics)
• Adult
• Chromosome Fragile Sites
• Female
• Humans
• Karyotype
• Male