Literature DB >> 28611553

A Female Patient with FMR1 Premutation and Mosaic X Chromosome Aneuploidy and Two Sons with Intellectual Disability.

Ekaterina M Galanina1,2, Andrey A Tulupov3,2, Natalya A Lemskaya1, Aleksandra M Korostyshevskaya3, Yuliya V Maksimova4,5, Asia R Shorina5, Andrey A Savelov3, Irina G Sergeeva2, Evgeniya R Isanova2, Irina V Grishchenko1,2, Dmitry V Yudkin1,2.   

Abstract

In this report, we describe a molecular cytogenetic study of a family burdened with intellectual disability (ID) and suicide. Our study revealed that the mother has a heterozygous premutation in the FMR1 gene and supernumerary X chromosomes as well as X-derived marker chromosomes. Both of her sons have ID and a normal chromosome number. One of the sons has fragile X syndrome, and the other has ID of an unclear nature.

Entities:  

Keywords:  Aneuploidy; FMR1; Fragile X syndrome; Intellectual disability; X chromosome

Year:  2016        PMID： 28611553      PMCID： PMC5465704          DOI： 10.1159/000453060

Source DB:  PubMed          Journal:  Mol Syndromol        ISSN： 1661-8769


  9 in total

Review 1.  Genetic studies in intellectual disability and related disorders.

Authors:  Lisenka E L M Vissers; Christian Gilissen; Joris A Veltman
Journal:  Nat Rev Genet       Date:  2015-10-27       Impact factor: 53.242

2.  Dosage effects of X and Y chromosomes on language and social functioning in children with supernumerary sex chromosome aneuploidies: implications for idiopathic language impairment and autism spectrum disorders.

Authors:  Nancy Raitano Lee; Gregory L Wallace; Elizabeth I Adeyemi; Katherine C Lopez; Jonathan D Blumenthal; Liv S Clasen; Jay N Giedd
Journal:  J Child Psychol Psychiatry       Date:  2012-07-25       Impact factor: 8.982

Review 3.  X-chromosome polysomy in the female: personal experience and review of the literature.

Authors:  J P Fryns; A Kleczkowska; P Petit; H van den Berghe
Journal:  Clin Genet       Date:  1983-05       Impact factor: 4.438

4.  Cytogenetic analysis by chromosome painting using DOP-PCR amplified flow-sorted chromosomes.

Authors:  H Telenius; A H Pelmear; A Tunnacliffe; N P Carter; A Behmel; M A Ferguson-Smith; M Nordenskjöld; R Pfragner; B A Ponder
Journal:  Genes Chromosomes Cancer       Date:  1992-04       Impact factor: 5.006

5.  Somatic expansion in mouse and human carriers of fragile X premutation alleles.

Authors:  Rachel Adihe Lokanga; Ali Entezam; Daman Kumari; Dmitry Yudkin; Mei Qin; Carolyn Beebe Smith; Karen Usdin
Journal:  Hum Mutat       Date:  2012-10-04       Impact factor: 4.878

6.  Fragile X prenatal analyses show full mutation females at high risk for mosaic Turner syndrome: fragile X leads to chromosome loss.

Authors:  Carl Dobkin; Gabriel Radu; Xiao-Hua Ding; W Ted Brown; Sarah L Nolin
Journal:  Am J Med Genet A       Date:  2009-10       Impact factor: 2.802

7.  Trinucleotide repeat amplification and hypermethylation of a CpG island in FRAXE mental retardation.

Authors:  S J Knight; A V Flannery; M C Hirst; L Campbell; Z Christodoulou; S R Phelps; J Pointon; H R Middleton-Price; A Barnicoat; M E Pembrey
Journal:  Cell       Date:  1993-07-16       Impact factor: 41.582

Review 8.  Fragile X syndrome: from molecular genetics to therapy.

Authors:  C D'Hulst; R F Kooy
Journal:  J Med Genet       Date:  2009-09       Impact factor: 6.318

9.  Chromosome fragility and the abnormal replication of the FMR1 locus in fragile X syndrome.

Authors:  Dmitry Yudkin; Bruce E Hayward; Mirit I Aladjem; Daman Kumari; Karen Usdin
Journal:  Hum Mol Genet       Date:  2014-01-12       Impact factor: 5.121
  9 in total

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