Mosaic trisomy 17: Variable clinical and cytogenetic presentation

American Journal of Medical Genetics, Part A

Volumn 155, Issue 10, 2011, Pages 2489-2495

  Daber, Robert ^a,b,c   Chapman, Kimberly A ^a   Ruchelli, Eduardo ^a   Kasperski, Stefanie ^a   Mulchandani, Surabhi ^a   Thiel, Brian D ^a   Hakonarson, Hakon ^a   Zackai, Elaine H ^a   Conlin, Laura K ^a   Spinner, Nancy B ^a  

^a CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^b CHILDREN'S NATIONAL MEDICAL CENTER   (United States)

^c UNIVERSITY OF PENNSYLVANIA   (United States)

Author keywords

Mosaic trisomy 17; SNP microarray analysis; Tissue specific mosaicism

Indexed keywords

ADULT; AMNIOCENTESIS; AMNION CELL; ARTICLE; BLOOD ANALYSIS; CHEEK MUCOSA; CHROMOSOME ANALYSIS; CLINICAL FEATURE; CONGENITAL HEART DISEASE; CONGENITAL MALFORMATION; CYTOGENETICS; ECHOGRAPHY; FALLOT TETRALOGY; FEMALE; GENOME ANALYSIS; HUMAN; HUMAN CELL; HUMAN TISSUE; KARYOTYPING; LYMPHOCYTE; MOSAIC TRISOMY 17; MOSAICISM; NEWBORN; PERINATAL PERIOD; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; SKIN FIBROBLAST; TISSUE SECTION;

ABNORMALITIES, MULTIPLE; CHROMOSOMES, HUMAN, PAIR 17; CYTOGENETIC ANALYSIS; FATAL OUTCOME; HUMANS; INFANT, NEWBORN; MOSAICISM; POLYMORPHISM, SINGLE NUCLEOTIDE; PRENATAL DIAGNOSIS; TRISOMY;

EID: 80053102928     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.34172     Document Type: Article

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