title: Can the classical euchromatic variants of 9q12/qh+ cause recurrent abortions?
abstract: Various heteromorphisms of the 9q heterochromatic area have been reported, and the 9q12/qh variant 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.
authors.affiliation: Erciyes University, Medical Faculty, Department of Medical Genetics, Kayseri, Turkey. dundar@erciyes.edu.tr
authors.forename: M
authors.initials: M
authors.lastname: Dundar
authors.forename: A O
authors.initials: AO
authors.lastname: Caglayan
authors.forename: C
authors.initials: C
authors.lastname: Saatci
authors.forename: C
authors.initials: C
authors.lastname: Batukan
authors.forename: M
authors.initials: M
authors.lastname: Basbug
authors.forename: Y
authors.initials: Y
authors.lastname: Ozkul
mesh_terms: D000026:Abortion, Habitual / Q000235:genetics*; D002871:Chromosome Banding; D002899:Chromosomes, Human, Pair 9 / Q000235:genetics*; D022041:Euchromatin / Q000235:genetics*; D005260:Female; D005817:Genetic Counseling; D005820:Genetic Testing; D014644:Genetic Variation / Q000235:genetics*; D006801:Humans; D007621:Karyotyping; D010375:Pedigree; D011247:Pregnancy; D014421:Turkey; D055815:Young Adult
chemical_list: D022041:Euchromatin