Mosaic isochromosome 15q and maternal uniparental isodisomy for chromosome 15 in a patient with morbid obesity and variant PWS-like phenotype

American Journal of Medical Genetics, Part A

Volumn 161, Issue 7, 2013, Pages 1695-1701

  Wang, Jia Chi ^a   Vaccarello Cruz, Mary ^b   Ross, Leslie ^a   Owen, Renius ^a   Pratt, Victoria M ^a   Lightman, Katherine ^b   Liu, Yan ^a   Hafezi, Katayoun ^a   Cherif, Dhia ^a   Sahoo, Trilochan ^a  

^a QUEST DIAGNOSTICS NICHOLS INSTITUTE   (United States)

^b Pediatric Endocrine and Diabetes Specialists   (United States)

Author keywords

Isochromosome; Mosaicism; Oligonucleotide SNP array; Prader Willi syndrome; Uniparental isodisomy

Indexed keywords

GENOMIC DNA; SMALL NUCLEAR RNA;

ADOLESCENT; ANGER; ARTICLE; CASE REPORT; CHOLECYSTECTOMY; CHOLELITHIASIS; CHROMOSOME 15; CHROMOSOME 15Q; CHROMOSOME ANALYSIS; CHROMOSOME MOSAICISM; CLINICAL FEATURE; DNA EXTRACTION; DNA METHYLATION; FEMALE; HUMAN; HUMAN CELL; HYPEREMESIS GRAVIDARUM; INCUBATOR; KARYOTYPE; MEDICAL HISTORY; MORBID OBESITY; OUTCOME ASSESSMENT; PHENOTYPE; PHYSICAL EXAMINATION; PRADER WILLI SYNDROME; PRIORITY JOURNAL; RESPIRATORY DISTRESS; SINGLE NUCLEOTIDE POLYMORPHISM; UNIPARENTAL DISOMY;

ADOLESCENT; CHROMOSOMES, HUMAN, PAIR 15; FEMALE; GENE EXPRESSION; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; ISOCHROMOSOMES; OBESITY, MORBID; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; PRADER-WILLI SYNDROME; SNRNP CORE PROTEINS; UNIPARENTAL DISOMY;

ROBERTSONIA;

EID: 84879464457     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35939     Document Type: Article

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