Literature DB >> 17006048

Unbalanced X; autosome translocation.

Neerja Gupta1, Himanshu Goel, Shubha R Phadke.   

Abstract

Unbalanced X; autosome translocation can result in multiple congenital abnormalities/mental retardation syndrome due to chromosomal imbalance. Here is described a patient with developmental delay, microcephaly, agenesis of corpus callosum, spasticity, seizures and dysmorphism as a result of meiotic malsegregation of balanced X; autosome translocation in mother. Present case signifies the importance of chromosomal analysis in a patient with developmental delay/ mental retardation and discuss lyonization in cases with X; autosome translocation.

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Year:  2006        PMID： 17006048     DOI： 10.1007/bf02790399

Source DB:  PubMed          Journal:  Indian J Pediatr        ISSN： 0019-5456            Impact factor:   1.967


  8 in total

1.  Molecular and cytogenetic analysis of the spreading of X inactivation in X;autosome translocations.

Authors:  Andrew J Sharp; Hugh T Spotswood; David O Robinson; Bryan M Turner; Patricia A Jacobs
Journal:  Hum Mol Genet       Date:  2002-12-01       Impact factor: 6.150

2.  De novo interstitial proximal deletion of 14q and prenatal diagnosis of holoprosencephaly.

Authors:  H Bruyere; B Favre; S Douvier; A Nivelon-Chevalier; F Mugneret
Journal:  Prenat Diagn       Date:  1996-11       Impact factor: 3.050

3.  Defining the breakpoints of proximal chromosome 14q rearrangements in nine patients using flow-sorted chromosomes.

Authors:  D Kamnasaran; P C O'Brien; S Schuffenhauer; O Quarrell; J R Lupski; P Grammatico; M A Ferguson-Smith; D W Cox
Journal:  Am J Med Genet       Date:  2001-08-01

Review 4.  Mammalian X-chromosome inactivation.

Authors:  S M Gartler; R J Andina
Journal:  Adv Hum Genet       Date:  1976

5.  De novo deletion (14)(q11.2q13) including PAX9: clinical and molecular findings.

Authors:  S Schuffenhauer; H J Leifheit; P Lichtner; H Peters; J Murken; P Emmerich
Journal:  J Med Genet       Date:  1999-03       Impact factor: 6.318

6.  De novo proximal interstitial deletions of 14q: cytogenetic and molecular investigations.

Authors:  S K Shapira; K L Anderson; A Orr-Urtregar; W J Craigen; J R Lupski; L G Shaffer
Journal:  Am J Med Genet       Date:  1994-08-01

7.  Unbalanced X;autosome translocations provide evidence for sequence specificity in the association of XIST RNA with chromatin.

Authors:  Lisa L Hall; Christine M Clemson; Meg Byron; Karen Wydner; Jeanne B Lawrence
Journal:  Hum Mol Genet       Date:  2002-12-01       Impact factor: 6.150

8.  Nonsyndromic X-linked mental retardation: where are the missing mutations?

Authors:  Hans-Hilger Ropers; Maria Hoeltzenbein; Vera Kalscheuer; Helger Yntema; Ben Hamel; Jean-Pierre Fryns; Jamel Chelly; Michael Partington; Jozef Gecz; Claude Moraine
Journal:  Trends Genet       Date:  2003-06       Impact factor: 11.639
  8 in total
  6 in total

1.  Understanding the Landscape of X-linked Variants Causing Intellectual Disability in Females Through Extreme X Chromosome Inactivation Skewing.

Authors:  Evelyn Quintanilha Vianna; Rafael Mina Piergiorge; Andressa Pereira Gonçalves; Jussara Mendonça Dos Santos; Veluma Calassara; Carla Rosenberg; Ana Cristina Victorino Krepischi; Raquel Tavares Boy da Silva; Suely Rodrigues Dos Santos; Márcia Gonçalves Ribeiro; Filipe Brum Machado; Enrique Medina-Acosta; Márcia Mattos Gonçalves Pimentel; Cíntia Barros Santos-Rebouças
Journal:  Mol Neurobiol       Date:  2020-06-20       Impact factor: 5.590

Review 2.  Determining the role of skewed X-chromosome inactivation in developing muscle symptoms in carriers of Duchenne muscular dystrophy.

Authors:  Emanuela Viggiano; Manuela Ergoli; Esther Picillo; Luisa Politano
Journal:  Hum Genet       Date:  2016-04-21       Impact factor: 4.132

Review 3.  Human X chromosome inactivation and reactivation: implications for cell reprogramming and disease.

Authors:  Irene Cantone; Amanda G Fisher
Journal:  Philos Trans R Soc Lond B Biol Sci       Date:  2017-11-05       Impact factor: 6.237

4.  A foetus with 18p11.32-q21.2 duplication and Xp22.33-p11.1 deletion derived from a maternal reciprocal translocation t(X;18)(q13;q21.3).

Authors:  Jun-Kun Chen; Ping Liu; Li-Qin Hu; Qing Xie; Quan-Fei Huang; Hai-Liang Liu
Journal:  Mol Cytogenet       Date:  2018-06-13       Impact factor: 2.009

5.  The decision on the embryo to transfer after Preimplantation Genetic Diagnosis for X-autosome reciprocal translocation in male carrier.

Authors:  Sandrine Chamayou; Maria Sicali; Debora Lombardo; Carmelita Alecci; Antonino Guglielmino
Journal:  Mol Cytogenet       Date:  2018-12-29       Impact factor: 2.009

6.  Mild phenotypes associated with an unbalanced X-autosome translocation, 46,X,der(X)t(X;8)(q28;q13).

Authors:  Takafumi Watanabe; Makiho Ishibashi; Ryota Suganuma; Miki Ohara; Shu Soeda; Hiromi Komiya; Keiya Fujimori
Journal:  Clin Case Rep       Date:  2018-06-24
  6 in total

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