Literature DB >> 20960156

A 47, XXY patient and Xq21.31 duplication with features of Prader-Willi syndrome: results of array-based comparative genomic hybridization.

Pornpoj Pramyothin1, Manop Pithukpakorn, Richard F Arakaki.   

Abstract

A man diagnosed with 47, XXY during childhood presents an appearance similar to that of Prader-Willi syndrome with hypogonadism and gynecomastia, developmental delay, and short stature and obesity. Array-based comparative genomic hybridization revealed duplication at Xq21.31 in addition to his abnormal karyotype. This duplication was also found in his mother who appeared normal. We raise the possibility that the phenotype in this patient is a combination of both extra X chromosome and Xq21 duplication.

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Year:  2010        PMID： 20960156     DOI： 10.1007/s12020-010-9330-8

Source DB:  PubMed          Journal:  Endocrine        ISSN： 1355-008X            Impact factor:   3.633


  13 in total

1.  Prenatal and postnatal prevalence of Klinefelter syndrome: a national registry study.

Authors:  Anders Bojesen; Svend Juul; Claus Højbjerg Gravholt
Journal:  J Clin Endocrinol Metab       Date:  2003-02       Impact factor: 5.958

2.  Klinefelter syndrome: expanding the phenotype and identifying new research directions.

Authors:  Joe Leigh Simpson; Felix de la Cruz; Ronald S Swerdloff; Carole Samango-Sprouse; Niels E Skakkebaek; John M Graham; Terry Hassold; Melissa Aylstock; Heino F L Meyer-Bahlburg; Huntington F Willard; Judith G Hall; Wael Salameh; Kyle Boone; Catherine Staessen; Dan Geschwind; Jay Giedd; Adrian S Dobs; Alan Rogol; Bonnie Brinton; C Alvin Paulsen
Journal:  Genet Med       Date:  2003 Nov-Dec       Impact factor: 8.822

Review 3.  Array comparative genomic hybridization and its applications in cancer.

Authors:  Daniel Pinkel; Donna G Albertson
Journal:  Nat Genet       Date:  2005-06       Impact factor: 38.330

Review 4.  Structural variation in the human genome.

Authors:  Lars Feuk; Andrew R Carson; Stephen W Scherer
Journal:  Nat Rev Genet       Date:  2006-02       Impact factor: 53.242

5.  Evidence of skewed X-chromosome inactivation in 47,XXY and 48,XXYY Klinefelter patients.

Authors:  Y Iitsuka; A Bock; D D Nguyen; C A Samango-Sprouse; J L Simpson; F Z Bischoff
Journal:  Am J Med Genet       Date:  2001-01-01

6.  A new assay for the analysis of X-chromosome inactivation based on methylation-specific PCR.

Authors:  T Kubota; S Nonoyama; H Tonoki; M Masuno; K Imaizumi; M Kojima; K Wakui; M Shimadzu; Y Fukushima
Journal:  Hum Genet       Date:  1999-01       Impact factor: 4.132

7.  X-chromosome inactivation patterns and androgen receptor functionality influence phenotype and social characteristics as well as pharmacogenetics of testosterone therapy in Klinefelter patients.

Authors:  Michael Zitzmann; Marion Depenbusch; Jörg Gromoll; Eberhard Nieschlag
Journal:  J Clin Endocrinol Metab       Date:  2004-12       Impact factor: 5.958

8.  Prader-Willi syndrome phenocopy due to duplication of Xq21.1-q21.31, with array CGH of the critical region.

Authors:  M T Gabbett; G B Peters; J M Carmichael; A P Darmanian; F A Collins
Journal:  Clin Genet       Date:  2008-02-13       Impact factor: 4.438

9.  New X-linked syndrome of mental retardation, gynecomastia, and obesity is linked to DXS255.

Authors:  M Wilson; J Mulley; A Gedeon; H Robinson; G Turner
Journal:  Am J Med Genet       Date:  1991-09-15

10.  Linkage mapping of a new syndromic form of X-linked mental retardation, MRXS7, associated with obesity.

Authors:  W Ahmad; M De Fusco; M Faiyaz ul Haque; P Aridon; T Sarno; M Sohail; S ul Haque; M Ahmad; A Ballabio; B Franco; G Casari
Journal:  Eur J Hum Genet       Date:  1999 Oct-Nov       Impact factor: 4.246
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  6 in total

1.  A Xq21.31 duplication without features of Prader-Willi syndrome.

Authors:  Manuel Castro-Gago; Laura Pérez-Gay; Carmen Gómez-Lado; Francisco Barros-Angueira
Journal:  Endocrine       Date:  2013-02       Impact factor: 3.633

2.  Sex chromosome aneuploidies and copy-number variants: a further explanation for neurodevelopmental prognosis variability?

Authors:  Jessica Le Gall; Mathilde Nizon; Olivier Pichon; Joris Andrieux; Séverine Audebert-Bellanger; Sabine Baron; Claire Beneteau; Frédéric Bilan; Odile Boute; Tiffany Busa; Valérie Cormier-Daire; Claude Ferec; Mélanie Fradin; Brigitte Gilbert-Dussardier; Sylvie Jaillard; Aia Jønch; Dominique Martin-Coignard; Sandra Mercier; Sébastien Moutton; Caroline Rooryck; Elise Schaefer; Marie Vincent; Damien Sanlaville; Cédric Le Caignec; Sébastien Jacquemont; Albert David; Bertrand Isidor
Journal:  Eur J Hum Genet       Date:  2017-06-14       Impact factor: 4.246

3.  Xq21.1q21.31 Duplication in Two Male Siblings.

Authors:  Charlotte Ann Sherlaw-Sturrock; Sarah Graham; Anita Morgan; Lisa Reali; Swati Naik
Journal:  Mol Syndromol       Date:  2021-11-01

Review 4.  Genetics of Prader-Willi syndrome and Prader-Will-Like syndrome.

Authors:  Chong Kun Cheon
Journal:  Ann Pediatr Endocrinol Metab       Date:  2016-09-30

5.  A 47,X,+t(X;X)(p22.3;p22.3)del(X)(p11.23q11.2),Y Klinefelter variant with morbid obesity.

Authors:  Youngsook Kim; Won Jin Kim; Ji Hye Huh; Sujin Lee; Daham Kim; Jae Won Hong; Eun Jig Lee
Journal:  Yonsei Med J       Date:  2013-03-01       Impact factor: 2.759

6.  Trisomy Xp and partial tetrasomy Xq resulting from gain of a rearranged X chromosome in a female fetus: pathogenic or not?

Authors:  Maria Yiu; Zhongxia Qi; Anita Ki; Jingwei Yu
Journal:  Mol Cytogenet       Date:  2015-07-25       Impact factor: 2.009
  6 in total

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