Paternal inheritance of a 16qh-polymorphism in a patient with repeated IVF failure.
Polymorphisms of the size of heterochromatic centromeric regions of chromosomes have been well documented in the human. They appear to have no phenotypic effects in the carriers. However, they appear to be over-represented in infertile couples and those with repeated miscarriages, and there is now growing evidence that they are involved in meiotic pairing, spindle fibre attachment and chromosome movement. Here an analysis of inheritance is reported for a couple presenting with repeated IVF failure in which several embryos were identified as carriers of a polymorphism of the centromeric region of chromosome 16 (16qh-) following aneuploidy screening by sequential fluorescence in-situ hybridization (FISH), using probes for chromosomes 13, 16, 18, 21, 22, X and Y. Detailed cytogenetic analysis by high-resolution banding and FISH of both parents and grandparents established that the polymorphism was familial and inherited from the maternal grandfather. Furthermore, complete analysis of all embryonic nuclei from carrier embryos and others rejected for transfer because of aneuploidy revealed no abnormalities in the segregation pattern of chromosome 16.
Chatzimeletiou
Katerina
K
The London Bridge Fertility, Gynaecology and Genetics Centre, 1 St Thomas Street, London SE1 9RY, UK. katerinachatzime@hotmail.com
Taylor
Jon
J
Marks
Karen
K
Grudzinskas
J Gedis
JG
Handyside
Alan H
AH
D000328:Adult; D002503:Centromere / Q000235:genetics; D002885:Chromosomes, Human, Pair 16 / Q000235:genetics*; D005260:Female; D005307:Fertilization in Vitro; D006570:Heterochromatin / Q000235:genetics; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007246:Infertility / Q000235:genetics* / Q000628:therapy*; D008297:Male; D011110:Polymorphism, Genetic; D011247:Pregnancy; D017211:Treatment Failure
D006570:Heterochromatin