The clinical phenotype of mosaicism for genome-wide paternal uniparental disomy: Two new reports

American Journal of Medical Genetics, Part A

Volumn 146, Issue 2, 2008, Pages 137-148

  Wilson, Meredith ^a   Peters, Gregory ^a   Bennetts, Bruce ^a   McGillivray, George ^b   Wu, Zan He ^a   Poon, Christopher ^a   Algar, Elizabeth ^b  

^a CHILDREN S HOSPITAL AT WESTMEAD   (Australia)

^b ROYAL CHILDREN'S HOSPITAL   (Australia)

Author keywords

Beckwith Wiedemann syndrome; Paternal uniparental disomy androgenetic biparental mosaicism; Placental mesenchymal dysplasia

Indexed keywords

ADRENAL CYST; ARTERY OCCLUSION; ARTICLE; BECKWITH WIEDEMANN SYNDROME; CASE REPORT; CHROMOSOME 11P; CLINICAL FEATURE; CONTROLLED STUDY; DNA METHYLATION; FAILURE TO THRIVE; FEEDING DISORDER; FEMALE; FIBROBLAST; GENE; GENE LOCUS; GENOME ANALYSIS; H19 GENE; HEPATOBLASTOMA; HUMAN; HUMAN CELL; HYPERPIGMENTATION; HYPOGLYCEMIA; INHERITANCE; KCNQ1OT1 GENE; LEUKOCYTE; LIT1 GENE; MICROARRAY ANALYSIS; MICROSATELLITE MARKER; MOSAICISM; PERSISTENT HYPERINSULINEMIC HYPOGLYCEMIA OF INFANCY; PHENOTYPE; PHEOCHROMOCYTOMA; PLACENTA DISORDER; PLACENTAL MESENCHYMAL DYSPLASIA; PREGNANCY COMPLICATION; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SHORT STATURE; SINGLE NUCLEOTIDE POLYMORPHISM; UNIPARENTAL DISOMY;

BECKWITH-WIEDEMANN SYNDROME; CHILD; CHILD, PRESCHOOL; FEMALE; GENOME, HUMAN; GENOTYPE; HUMANS; METHYLATION; MICROSATELLITE REPEATS; MOSAICISM; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; UNIPARENTAL DISOMY;

EID: 37849033776     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32172     Document Type: Article

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