✦ LIBER ✦

Mother and daughter with 45,X/46,X,r(X)(p22.3q28) and mental retardation: Analysis of the x-inactivation patterns

✍ Scribed by Matsuo, Mari; Muroya, Koji; Nanao, Kenji; Hasegawa, Yukihiro; Terasaki, Hiroshi; Kosaki, Kenjiro; Ogata, Tsutomu

Publisher: John Wiley and Sons
Year: 2000
Tongue: English
Weight: 46 KB
Volume: 91
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(20000410)91:4<267::aid-ajmg5>3.0.co;2-j

No coin nor oath required. For personal study only.

✦ Synopsis

We report on a mother and daughter both with a 45,X/46,X,r(X)(p22. 3q28) karyotype and mental retardation. Fluorescence in situ hybridization (FISH) and microsatellite analyses for 14 loci/region at Xp22.3 and seven loci/region at Xq28 indicated that the ring X chromosome was missing a roughly 12-Mb region from Xp22.3 with the breakpoint between DXS85 and DXS9972, and another region of less than 100 kb from Xq28 with the breakpoint distal to the region defined by the FISH probe c8.2/1. X-inactivation analysis, using the methylation status of the AR gene (exon 1) as an indicator, showed that the normal and ring X chromosomes in the X,r(X)(p22.3q28) cell lineage were randomly inactivated. The Xp22.3 deleted region partially overlaps with the regional intervals of MRX19, MRX21, MRX24, MRX37, MRX43, and MRX49 associated with heterozygote manifestation. Therefore, it is likely that one or more of these MRX genes, subject to X-inactivation, are lost from the ring X chromosome, and that reduced expression of the MRX gene(s) caused by random X-inactivation has resulted in mental retardation in the mother and daughter.

📜 SIMILAR VOLUMES

Multiple congenital anomalies in a fetus

Multiple congenital anomalies in a fetus with 45,X/46,X,r(X)(p11.22q12) mosaicism

✍ Nowaczyk, Malgorzata J.M.; Ramsay, Jennifer A.; Mohide, Patrick; Tomkins, Darrel 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 15 KB 👁 1 views

Ring X chromosomes that do not undergo inactivation may cause malformations and mental retardation. We report on a fetus with anencephaly, total dorsal rachischisis, and diaphragmatic hernia that was found to have a mosaic 45,X/46,X,r(X)(p11.22q12) karyotype. Fluorescent in situ hybridization (FISH)

Phenotypic manifestation in a child with

Phenotypic manifestation in a child with 46,X,der(X)t(X;1)(q24;q31.1)

✍ Collins, Kelly A.; Eydoux, Patrice; Duncan, Alessandra M.V.; Ortenberg, June; Si 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 14 KB 👁 1 views

We report on a 5-year-old girl with multiple congenital anomalies, developmental delay, and a de novo unbalanced translocation between chromosomes X and 1[46,X,der(X)-t(X;1)(q24;q31.1)] resulting in partial trisomy 1q and partial monosomy Xq. The karyotype shows inactivation of the abnormal X chromo

Witness X

✍ Mark Dawson 📂 Fiction 📅 2017 🏛 Unputdownable 🌐 English ⚖ 58 KB 👁 2 views

Bryan Duffy is Witness X - a government agent implicated in a national scandal and banished to Spain until the agenda can be moved on. But when North Korean hitmen attack a seeming innocent on the streets of London, Duffy is called back to the fold. He is tasked with finding the woman's assaila

Witness X

✍ Dawson, Mark 📂 Fiction 📅 2017 🏛 Unputdownable 🌐 English ⚖ 58 KB 👁 1 views

✍ Mandy Lee 📂 Fiction 📅 2019 🏛 Mandy Lee 🌐 English ⚖ 208 KB 👁 1 views

✍ Ilyasah Shabazz 📂 Fiction 📅 2015 🏛 Candlewick Press (MA) 🌐 en-US ⚖ 266 KB

Co-written by Malcolm X's daughter, this riveting and revealing novel follows the formative years of the man whose words and actions shook the world. Malcolm Little's parents have always told him that he can achieve anything, but from what he can tell, that's a pack of lies—after all, his father's b