Literature DB >> 27672550

Behavioral phenotype in a child with Prader-Willi syndrome and comorbid 47, XYY.

Pooja Palkar1, Anahid Kabasakalian1, Bonnie Taylor1, Ellen Doernberg1, Casara Jean Ferretti1, Genoveva Uzunova1, Eric Hollander1.   

Abstract

We report a 12-year-old male with Prader-Willi syndrome (PWS) and 47, XYY syndrome. Genetic work up revealed 47, XYY karyotype. PWS diagnosis was made by polymerase chain reaction methylation and maternal uniparental disomy (mUPD) was determined to be the etiology. Review of distinct behavioral features, possible interplay between the two syndromes and considerations for diagnoses are presented. To our knowledge, this is the first report of behavioral features in PWS with comorbid 47, XYY.

Entities:  

Keywords:  47; Prader-Willi syndrome; XYY; attention deficit hyperactivity disorder; autism spectrum disorder

Year:  2016        PMID： 27672550      PMCID： PMC4995422          DOI： 10.5582/irdr.2016.01043

Source DB:  PubMed          Journal:  Intractable Rare Dis Res        ISSN： 2186-3644


  8 in total

1.  Mental health problems in children with prader-willi syndrome.

Authors:  Norbert Skokauskas; Eileen Sweeny; Judith Meehan; Louise Gallagher
Journal:  J Can Acad Child Adolesc Psychiatry       Date:  2012-08

2.  Behavioral phenotypes in males with XYY and possible role of increased NLGN4Y expression in autism features.

Authors:  J L Ross; N Tartaglia; D E Merry; M Dalva; A R Zinn
Journal:  Genes Brain Behav       Date:  2015-02-01       Impact factor: 3.449

3.  Prader-Willi syndrome, compulsive and ritualistic behaviours: the first population-based survey.

Authors:  D J Clarke; H Boer; J Whittington; A Holland; J Butler; T Webb
Journal:  Br J Psychiatry       Date:  2002-04       Impact factor: 9.319

4.  Maladaptive behavior in children with Prader-Willi syndrome, Down syndrome, and nonspecific mental retardation.

Authors:  E M Dykens; C Kasari
Journal:  Am J Ment Retard       Date:  1997-11

Review 5.  Prader-Willi syndrome: clinical genetics, cytogenetics and molecular biology.

Authors:  Douglas C Bittel; Merlin G Butler
Journal:  Expert Rev Mol Med       Date:  2005-07-25       Impact factor: 5.600

6.  Emotional symptoms in Prader-Willi syndrome adolescents.

Authors:  B Y Whitman; P Accardo
Journal:  Am J Med Genet       Date:  1987-12

7.  47,XYY syndrome: clinical phenotype and timing of ascertainment.

Authors:  Martha Zeger Bardsley; Karen Kowal; Carly Levy; Ania Gosek; Natalie Ayari; Nicole Tartaglia; Najiba Lahlou; Breanna Winder; Shannon Grimes; Judith L Ross
Journal:  J Pediatr       Date:  2013-06-27       Impact factor: 4.406

8.  Behavioral and emotional symptoms of children and adolescents with Prader-Willi Syndrome.

Authors:  Linda A Reddy; Steven I Pfeiffer
Journal:  J Autism Dev Disord       Date:  2007-05
  8 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.