PMID: 11343341May 9, 2001Paper

Grandmaternal origin of an isochromosome 18p present in two maternal half-sisters

American Journal of Medical Genetics
J BoyleS L Yong

Abstract

The syndrome of tetrasomy 18p has been well documented in the literature. This is typically a result of a supernumerary isochromosome 18p, that has arisen during maternal meiosis II. This report presents clinical and molecular findings in two maternal half sisters with an isochromosome 18p. The isochromosome is inferred to have arisen during meiosis in the maternal grandmother and to have undergone mitotic and meiotic recombination in the mother of JJ and AT. The abnormal cell line may be restricted to the gonad in the mother as only normal 46,XX cells were detected by cytogenetic analysis of her blood or fibroblasts and physical examination revealed only normal findings. Thus, the isochromosome, although present at fertilization, must have been lost from the majority of embryonic precursor cells. This case raises important genetic counseling issues concerning recurrence risks.

References

Nov 1, 1975·Clinical Genetics·K M TaylorD L Chadwick
Mar 1, 1989·Journal of Medical Genetics·K TakedaT Hasegawa
Feb 1, 1982·Cancer Genetics and Cytogenetics·A de la Chapelle
Jun 1, 1993·American Journal of Medical Genetics·D AbeliovichJ Zlotogora
Jan 1, 1996·European Journal of Human Genetics : EJHG·M BuggeK Brøndum-Nielsen
Jan 1, 1996·European Journal of Human Genetics : EJHG·D KotzotA Schinzel

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Citations

Nov 30, 2006·Journal of Applied Genetics·Smitha RamegowdaNallur B Ramachandra
Aug 2, 2001·Genetics in Medicine : Official Journal of the American College of Medical Genetics·M S WilliamsC Jackson-Cook
Jul 17, 2012·Cytogenetic and Genome Research·A R Noronha DutraM I Melaragno
Jan 21, 2010·Journal of Genetics·Mahmut BalkanTurgay Budak
Jan 2, 2013·Taiwanese Journal of Obstetrics & Gynecology·Chih-Ping ChenWayseen Wang
Aug 31, 2010·American Journal of Medical Genetics. Part a·Courtney SeboldJannine D Cody
Feb 15, 2011·European Journal of Medical Genetics·Frenny ShethJayesh Sheth
Jun 17, 2016·Fetal and Pediatric Pathology·Cihan InanFüsun G Varol
May 9, 2018·Clinical Dysmorphology·Akif AyazOzge O Yuregir
Dec 12, 2013·Obstetrics & Gynecology Science·Phill-Seung JungAhm Kim
Jul 3, 2007·American Journal of Medical Genetics. Part a·Benno Röthlisberger, Dieter Kotzot
Aug 5, 2010·American Journal of Medical Genetics. Part a·Annalisa NucaroCarlo Cianchetti
Aug 23, 2005·American Journal of Medical Genetics. Part a·Ralph J DeBerardinisElaine H Zackai
Jan 18, 2006·American Journal of Medical Genetics. Part a·Hanes M SwingleKim Keppler-Noreuil
Feb 3, 2007·Cytogenetic and Genome Research·N Douet-GuilbertM De Braekeleer
Dec 16, 2020·Molecular Genetics & Genomic Medicine·Małgorzata RydzaniczRafał Płoski

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