Bilateral Pheochromocytomas, Hemihyperplasia, and Subtle Somatic Mosaicism: The Importance of Detecting Low-Level Uniparental Disomy

American Journal of Medical Genetics, Part A

Volumn 161, Issue 5, 2013, Pages 993-1001

  Kalish, Jennifer M ^a   Conlin, Laura K ^a   Mostoufi Moab, Sogol ^a,b   Wilkens, Alisha B ^a   Mulchandani, Surabhi ^a   Zelley, Kristin ^a   Kowalski, Megan ^a   Bhatti, Tricia R ^a   Russo, Pierre ^a   Mattei, Peter ^a   Mackenzie, William G ^c   Livolsi, Virginia ^b   Nichols, Kim E ^a,b   Biegel, Jaclyn A ^a,b   Spinner, Nancy B ^a   Deardorff, Matthew A ^a,b  

^a CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^b UNIVERSITY OF PENNSYLVANIA   (United States)

^c NEMOURS ALFRED I DUPONT HOSPITAL FOR CHILDREN   (United States)

Author keywords

Beckwith Wiedemann; Hemihyperplasia; Hemihypertrophy; Isodisomy; Methylation; Mosaicism; Pheochromocytoma; Uniparental disomy

Indexed keywords

CYCLIN DEPENDENT KINASE INHIBITOR 1C; SOMATOMEDIN B;

ADULT; ARTICLE; AUTOSOME; CANCER INCIDENCE; CANCER RISK; CARCINOGENESIS; CASE REPORT; CHILD; CHROMOSOME 11P; CHROMOSOME 12P; CHROMOSOME 1Q; CHROMOSOME 21Q; CHROMOSOME 22Q; CHROMOSOME 23Q; CHROMOSOME 3P; CHROMOSOME 8P; CHROMOSOME DELETION; CLINICAL FEATURE; CONGENITAL BLOOD VESSEL MALFORMATION; DNA DETERMINATION; DNA METHYLATION; ECHOGRAPHY; FACE ASYMMETRY; FEMALE; GENE DOSAGE; GENETIC SCREENING; HEMIHYPERTROPHY; HUMAN; HUMAN TISSUE; HYPOGLYCEMIA; IMMUNOHISTOCHEMISTRY; INFANT; LEG LENGTH INEQUALITY; MACROGLOSSIA; MALE; MOSAICISM; MUTATIONAL ANALYSIS; NUCLEAR MAGNETIC RESONANCE IMAGING; PHEOCHROMOCYTOMA; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SENSITIVITY ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; SKIN FIBROBLAST; SKIN HEMANGIOMA; UMBILICAL HERNIA; UNIPARENTAL DISOMY; WHOLE BODY SCINTISCANNING;

BECKWITH-WIEDEMANN SYNDROME; CHROMOSOMES, HUMAN, PAIR 11; FEMALE; HUMANS; HYPERPLASIA; INFANT; MOSAICISM; PHEOCHROMOCYTOMA; POLYMORPHISM, SINGLE NUCLEOTIDE; UNIPARENTAL DISOMY;

EID: 84876796168     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35831     Document Type: Article

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