Literature DB >> 23862040

Clinical Outcomes and Counselling Issues regarding Partial Trisomy of Terminal Xp in a Child with Developmental Delay.

Karen L Sheath1, Roberto L Mazzaschi, Salim Aftimos, Nerine E Gregersen, Alice M George, Donald R Love.   

Abstract

Female carriers of balanced translocations involving an X chromosome and an autosome offer genetic counselling challenges. This is in view of the number of possible meiotic outcomes, but also due to the impact of X chromosome-localised genes that are no longer subject to gene silencing through the X chromosome inactivation centre. We present a case where delineation of the extent of X chromosome-localised genes on the derivative autosome using molecular karyotyping offers critical information in the context of genetic counselling.

Entities:  

Keywords:  Case report; KAL-1 protein; New Zealand; Receptors, gastrin-releasing peptide; Trisomy; X chromosome inactivation; X chromosome, monosomy Xp22 pter

Year:  2013        PMID： 23862040      PMCID： PMC3706124          DOI： 10.12816/0003240

Source DB:  PubMed          Journal:  Sultan Qaboos Univ Med J        ISSN： 2075-051X


  22 in total

1.  Functional disomy of Xp: prenatal findings and postnatal outcome.

Authors:  E Kolomietz; K Godbole; E J T Winsor; T Stockley; G Seaward; D Chitayat
Journal:  Am J Med Genet A       Date:  2005-05-01       Impact factor: 2.802

2.  Overexpression of gastrin-releasing peptide receptor induced layer disorganization in brain.

Authors:  M Iwabuchi; F Maekawa; K Tanaka; H Ohki-Hamazaki
Journal:  Neuroscience       Date:  2005-12-19       Impact factor: 3.590

3.  X chromosome gene expression in human tissues: male and female comparisons.

Authors:  Zohreh Talebizadeh; Stephen D Simon; Merlin G Butler
Journal:  Genomics       Date:  2006-09-01       Impact factor: 5.736

4.  A gene deleted in Kallmann's syndrome shares homology with neural cell adhesion and axonal path-finding molecules.

Authors:  B Franco; S Guioli; A Pragliola; B Incerti; B Bardoni; R Tonlorenzi; R Carrozzo; E Maestrini; M Pieretti; P Taillon-Miller; C J Brown; H F Willard; C Lawrence; M Graziella Persico; G Camerino; A Ballabio
Journal:  Nature       Date:  1991-10-10       Impact factor: 49.962

5.  X-inactivation profile reveals extensive variability in X-linked gene expression in females.

Authors:  Laura Carrel; Huntington F Willard
Journal:  Nature       Date:  2005-03-17       Impact factor: 49.962

6.  Scope for more genetic testing in learning disability. Case report of an inherited duplication on the X-chromosome.

Authors:  B A Robertshaw; J MacPherson
Journal:  Br J Psychiatry       Date:  2006-08       Impact factor: 9.319

7.  Heparan sulfate proteoglycan-dependent induction of axon branching and axon misrouting by the Kallmann syndrome gene kal-1.

Authors:  Hannes E Bülow; Katherine L Berry; Liat H Topper; Elior Peles; Oliver Hobert
Journal:  Proc Natl Acad Sci U S A       Date:  2002-04-30       Impact factor: 11.205

8.  Partial X chromosome trisomy with functional disomy of Xp due to failure of X inactivation.

Authors:  K M Gustashaw; V Zurcher; L H Dickerman; R Stallard; H F Willard
Journal:  Am J Med Genet       Date:  1994-10-15

9.  Autism, mental retardation, multiple exostoses and short stature in a female with 46,X,t(X;8)(p22.13;q22.1).

Authors:  P Bolton; J Powell; M Rutter; V Buckle; J R Yates; Y Ishikawa-Brush; A P Monaco
Journal:  Psychiatr Genet       Date:  1995       Impact factor: 2.458

10.  Functional disomy of proximal Xp causes a distinct phenotype comprising early hypotonia, hypertelorism, small hands and feet, ear abnormalities, myopia and cognitive impairment.

Authors:  Matthew Hunter; Damien Bruno; David J Amor
Journal:  Am J Med Genet A       Date:  2009-08       Impact factor: 2.802
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  2 in total

1.  A non-syndromic intellectual disability associated with a de novo microdeletion at 7q and 18p, microduplication at Xp, and 18q partial trisomy detected using chromosomal microarray analysis approach.

Authors:  Irene Plaza Pinto; Lysa Bernardes Minasi; Alex Silva da Cruz; Aldaires Vieira de Melo; Damiana Míriam da Cruz E Cunha; Rodrigo Roncato Pereira; Cristiano Luiz Ribeiro; Claudio Carlos da Silva; Daniela de Melo E Silva; Aparecido Divino da Cruz
Journal:  Mol Cytogenet       Date:  2014-06-27       Impact factor: 2.009

2.  Genetic and clinical characterization of 73 Pigmentary Mosaicism patients: revealing the genetic basis of clinical manifestations.

Authors:  C Salas-Labadía; S Gómez-Carmona; R Cruz-Alcívar; D Martínez-Anaya; V Del Castillo-Ruiz; C Durán-McKinster; V Ulloa-Avilés; E Yokoyama-Rebollar; A Ruiz-Herrera; P Navarrete-Meneses; E Lieberman-Hernández; A González-Del Angel; D Cervantes-Barragán; C Villarroel-Cortés; A Reyes-León; D Suárez-Pérez; A Pedraza-Meléndez; A González-Orsuna; P Pérez-Vera
Journal:  Orphanet J Rare Dis       Date:  2019-11-15       Impact factor: 4.123
  2 in total

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