Analysis of a paracentric inversion in human oocytes: nonhomologous pairing in pachytene.
A cytological analysis of the pairing configurations in meiosis in a 19-week human fetus with a de novo paracentric inversion of chromosome 7 (q11.23)(q21.1) is reported, using fluorescent in situ hybridization with a chromosome 7 DNA library, a DNA probe for the centromeric region of chromosome 7, and a probe for the William Syndrome Critical Region (WSCR) at 7q11.23. Of 1079 pachytene cells, 58% exhibited complete heterosynapsis of the inverted region while only 10.3% of cells exhibited the expected loop formation. Meiotic progression was observed to be normal.
Cheng
E Y
EY
Department of Obstetrics and Gynecology, University of Washington Medical Center, Seattle 98195-6460, USA. chengels@u.washington.edu
Chen
Y J
YJ
Disteche
C M
CM
Gartler
S M
SM
D007446:Chromosome Inversion; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics*; D020732:Cytogenetic Analysis; D005260:Female; D005333:Fetus; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008540:Meiosis / Q000235:genetics; D009865:Oocytes / Q000378:metabolism*; D010053:Ovary / Q000196:embryology / Q000378:metabolism; D011247:Pregnancy