Does parent of origin matter? Methylation studies should be performed on patients with multiple copies of the prader-willi/angelman syndrome critical region

American Journal of Medical Genetics, Part A

Volumn 164, Issue 10, 2014, Pages 2514-2520

  Aypar, Umut ^a   Brodersen, Pamela R ^a   Lundquist, Patrick A ^a   Brian Dawson, D ^a   Thorland, Erik C ^a   Hoppman, Nicole ^a  

^a MAYO CLINIC   (United States)

Author keywords

15q11.2 q13; Array CGH; Autism; MSMLPA; PWASCR

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; AUTISM; CHILD; CHROMOSOME 15; CHROMOSOME ANALYSIS; CLINICAL ARTICLE; COMPARATIVE GENOMIC HYBRIDIZATION; CONTROLLED STUDY; DEPRESSION; DEVELOPMENTAL DISORDER; DNA METHYLATION ASSAY; DNA STRUCTURE; FACE DYSMORPHIA; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DOSAGE; HAPPY PUPPET SYNDROME; HUMAN; INFANTILE SPASM; INTELLECTUAL IMPAIRMENT; INTERSTITIAL CHROMOSOME DUPLICATION; INTERSTITIAL CHROMOSOME TRIPLICATION; LEARNING DISORDER; MALE; MARKER CHROMOSOME; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; PATHOGENICITY; PHENOTYPE; PRADER WILLI ANGELMAN SYNDROME CRITICAL REGION; PRADER WILLI SYNDROME; PRESCHOOL CHILD; RETROSPECTIVE STUDY; SCHOOL CHILD; SEIZURE; STRUCTURAL CHROMOSOME ABERRATION; YOUNG ADULT; CHROMOSOME DUPLICATION; DNA METHYLATION; GENE DELETION; GENE DUPLICATION; GENETICS; INFANT; NEWBORN; PARENT;

ADOLESCENT; ADULT; ANGELMAN SYNDROME; CHILD; CHILD, PRESCHOOL; CHROMOSOME DUPLICATION; CHROMOSOMES, HUMAN, PAIR 15; DEVELOPMENTAL DISABILITIES; DNA METHYLATION; FEMALE; GENE DOSAGE; GENE DUPLICATION; HUMANS; INFANT; INFANT, NEWBORN; MALE; PARENTS; PHENOTYPE; PRADER-WILLI SYNDROME; SEQUENCE DELETION; YOUNG ADULT;

EID: 84908258341     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36663     Document Type: Article

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