Literature DB >> 10701104

Interstitial 6q deletion with a Prader-Willi-like phenotype: a new case and review of the literature.

H J Gilhuis1, C M van Ravenswaaij, B J Hamel, F J Gabreëls.   

Abstract

We report on an additional fourth case of Prader-Willi (PW)-like phenotype and an interstitial deletion of 6q. Despite sharing clinical characteristics, patients with a PW-like phenotype and a deletion of 6q, have features which distinguish them from Prader-Willi syndrome (PWS) patients. This case emphasizes the need to examine patients with suspected PWS, but who are negative for recognizable deletions of 15q11-q13 or uniparental maternal disomy of chromosome 15, for a deletion of 6q.

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Year:  2000        PMID： 10701104     DOI： 10.1053/ejpn.1999.0259

Source DB:  PubMed          Journal:  Eur J Paediatr Neurol        ISSN： 1090-3798            Impact factor:   3.140


  15 in total

1.  Interstitial Deletions at 6q14.1-q15 Associated with Obesity, Developmental Delay and a Distinct Clinical Phenotype.

Authors:  C Wentzel; S A Lynch; E-L Stattin; F H Sharkey; G Annerén; A-C Thuresson
Journal:  Mol Syndromol       Date:  2010-06-09

2.  Functional characterization of SIM1-associated enhancers.

Authors:  Mee J Kim; Nir Oksenberg; Thomas J Hoffmann; Christian Vaisse; Nadav Ahituv
Journal:  Hum Mol Genet       Date:  2013-11-07       Impact factor: 6.150

3.  Genotype-phenotype correlation in interstitial 6q deletions: a report of 12 new cases.

Authors:  Jill A Rosenfeld; Dina Amrom; Eva Andermann; Frederick Andermann; Martin Veilleux; Cynthia Curry; Jamie Fisher; Stephen Deputy; Arthur S Aylsworth; Cynthia M Powell; Kandamurugu Manickam; Bryce Heese; Melissa Maisenbacher; Cathy Stevens; Jay W Ellison; Sheila Upton; John Moeschler; Wilfredo Torres-Martinez; Abby Stevens; Robert Marion; Elaine Maria Pereira; Melanie Babcock; Bernice Morrow; Trilochan Sahoo; Allen N Lamb; Blake C Ballif; Alex R Paciorkowski; Lisa G Shaffer
Journal:  Neurogenetics       Date:  2012-01-05       Impact factor: 2.660

4.  Identification and characterization of a second melanin-concentrating hormone receptor, MCH-2R.

Authors:  A W Sailer; H Sano; Z Zeng; T P McDonald; J Pan; S S Pong; S D Feighner; C P Tan; T Fukami; H Iwaasa; D L Hreniuk; N R Morin; S J Sadowski; M Ito; M Ito; A Bansal; B Ky; D J Figueroa; Q Jiang; C P Austin; D J MacNeil; A Ishihara; M Ihara; A Kanatani; L H Van der Ploeg; A D Howard; Q Liu
Journal:  Proc Natl Acad Sci U S A       Date:  2001-06-12       Impact factor: 11.205

5.  Incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1.

Authors:  Laïla El Khattabi; Fabien Guimiot; Eva Pipiras; Joris Andrieux; Clarisse Baumann; Sonia Bouquillon; Anne-Lise Delezoide; Bruno Delobel; Florence Demurger; Hélène Dessuant; Séverine Drunat; Christelle Dubourg; Céline Dupont; Laurence Faivre; Muriel Holder-Espinasse; Sylvie Jaillard; Hubert Journel; Stanislas Lyonnet; Valérie Malan; Alice Masurel; Nathalie Marle; Chantal Missirian; Alexandre Moerman; Anne Moncla; Sylvie Odent; Orazio Palumbo; Pietro Palumbo; Aimé Ravel; Serge Romana; Anne-Claude Tabet; Mylène Valduga; Marie Vermelle; Massimo Carella; Jean-Michel Dupont; Alain Verloes; Brigitte Benzacken; Andrée Delahaye
Journal:  Eur J Hum Genet       Date:  2014-11-05       Impact factor: 4.246

Review 6.  The neuropathology of obesity: insights from human disease.

Authors:  Edward B Lee; Mark P Mattson
Journal:  Acta Neuropathol       Date:  2013-10-06       Impact factor: 17.088

7.  Evaluation of A2BP1 as an obesity gene.

Authors:  Lijun Ma; Robert L Hanson; Michael T Traurig; Yunhua L Muller; Bakhshish P Kaur; Jessica M Perez; David Meyre; Mao Fu; Antje Körner; Paul W Franks; Wieland Kiess; Sayuko Kobes; William C Knowler; Peter Kovacs; Philippe Froguel; Alan R Shuldiner; Clifton Bogardus; Leslie J Baier
Journal:  Diabetes       Date:  2010-08-19       Impact factor: 9.461

Review 8.  Lessons from extreme human obesity: monogenic disorders.

Authors:  Sayali A Ranadive; Christian Vaisse
Journal:  Endocrinol Metab Clin North Am       Date:  2008-09       Impact factor: 4.741

9.  Loss-of-function mutations in SIM1 contribute to obesity and Prader-Willi-like features.

Authors:  Amélie Bonnefond; Anne Raimondo; Fanny Stutzmann; Maya Ghoussaini; Shwetha Ramachandrappa; David C Bersten; Emmanuelle Durand; Vincent Vatin; Beverley Balkau; Olivier Lantieri; Violeta Raverdy; François Pattou; Wim Van Hul; Luc Van Gaal; Daniel J Peet; Jacques Weill; Jennifer L Miller; Fritz Horber; Anthony P Goldstone; Daniel J Driscoll; John B Bruning; David Meyre; Murray L Whitelaw; Philippe Froguel
Journal:  J Clin Invest       Date:  2013-06-17       Impact factor: 14.808

10.  Prader-willi syndrome: clinical aspects.

Authors:  Grechi Elena; Cammarata Bruna; Mariani Benedetta; Di Candia Stefania; Chiumello Giuseppe
Journal:  J Obes       Date:  2012-10-23
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