Turner syndrome: a cytogenetic and molecular study

Annals of Human Genetics
P JacobsD Skuse

Abstract

Two hundred and eleven patients with a clinical diagnosis of Turner syndrome were studied. We report (i) the cytogenetic results, (ii) the frequency of cryptic mosaicism and (iii) the parental age and the parental origin of the abnormality. We scored 100 cells from blood cultures and found 97 patients to have a 45,X constitution, 15 to be 45,X/46,XX or 45,X/47,XXX mosaics, 86 to have a structurally abnormal X and 13 to have a structurally abnormal Y chromosome. Molecular methods were used to look for cryptic X and Y chromosome mosaicism in patients with a 45,X constitution. Two cryptic X but no cryptic Y mosaics were detected. In 74% of the 45,X patients the X was maternal in origin. The i(Xq)s were approximately equally likely to involve the paternal or maternal chromosome, while the majority of deletions and rings and virtually all the abnormal Y chromosomes were paternal in origin. We suggest that the preponderance of paternal errors in Turner syndrome may result from the absence of pairing along the greater part of the XY bivalent during paternal mei I, which may make the sex chromosomes particularly susceptible to both structural and non-disjunctional errors during male gametogenesis.

Citations

Sep 2, 2005·Cerebral Cortex·Shelli R KeslerAllan L Reiss
Nov 23, 2006·Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences·David Skuse
Jul 7, 2011·Cold Spring Harbor Perspectives in Biology·Edith Heard, James Turner
May 23, 2006·Archives of Disease in Childhood·M D C DonaldsonD B Dunger
Feb 24, 2000·Archives of Disease in Childhood·D H Skuse
Mar 1, 2007·Journal of Medical Genetics·A C KarcaniasN A Affara
Jun 27, 1998·Journal of Medical Genetics·P DaltonP Jacobs
May 26, 2012·Indian Journal of Endocrinology and Metabolism·Sunil Kumar KotaKirtikumar D Modi
Oct 2, 2012·Fertility and Sterility·Quincy Zhong, Lawrence C Layman
Mar 6, 2004·Annals of the New York Academy of Sciences·David SkuseKate Lawrence
Sep 3, 2003·Andrologia·A JungW-B Schill
Oct 9, 2008·The Journal of Obstetrics and Gynaecology Research·Ji Kwon ParkWon Young Paik
Jul 9, 2016·Journal of Assisted Reproduction and Genetics·Pooja ChauhanAmit Kumar Rai
Jul 20, 2019·Child: Care, Health and Development·Jeanne WolstencroftDavid Skuse
Jun 10, 2020·The Journal of Obstetrics and Gynaecology Research·Shanoli GhoshAjanta Halder
Nov 30, 2019·Chromosome Research : an International Journal on the Molecular, Supramolecular and Evolutionary Aspects of Chromosome Biology·Brian P Chadwick
Nov 9, 2005·Médecine sciences : M/S·Catherine Turleau, Michel Vekemans
Mar 12, 2021·Autism Research : Official Journal of the International Society for Autism Research·Jeanne WolstencroftDavid Skuse

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