GENETIC COUNSELING, cilt.19, sa.3, ss.281-286, 2008 (SCI-Expanded)
Can the classical euchromatic variants of 9q12/qh+ cause recurrent abortions?: Various heteromorphisms of the 9q heterochromatic area have been reported, and the 9q12/qh varient has been postulated to be more prevalent than initially perceived. Of note is that all probands are clinically normal. This paper documents two cases with a G-band within the 9q12h region and recurrent miscarriages. Patient 1 is a 22-year-old woman with a history of 2 miscarriages. Patient 2 is a 19-year-old woman with a history of 3 miscarriages. Chromosome analysis of the patients showed 46,XX,9q12h+. Thus, the existence of a G+ band in 9qh may not be a normal variant in humans. We suggest IVF and preimplantation genetic diagnosis in such patients.