Mild phenotype in a patient with mosaic del(8p)/inv dup del(8p)

American Journal of Medical Genetics, Part A

Volumn 152, Issue 11, 2010, Pages 2827-2831

  Hand, Matthew ^a   Gray, Carolyn ^b   Glew, Gwen ^a   Tsuchiya, Karen D ^a,b  

^a UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

^b SEATTLE CHILDREN S HOSPITAL   (United States)

Author keywords

8p; DNA array; Inverted duplication; Mosaicism

Indexed keywords

ANAMNESIS; CASE REPORT; CELL LINE; CHILD; CHROMOSOME 8P; CHROMOSOME ANALYSIS; CHROMOSOME BREAKAGE; CHROMOSOME DELETION; CHROMOSOME G BAND; CLINICAL FEATURE; COMPARATIVE GENOMIC HYBRIDIZATION; CONGENITAL MALFORMATION; CYTOGENETICS; DEVELOPMENTAL DISORDER; DISEASE SEVERITY; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENOMIC INSTABILITY; HUMAN; LETTER; MOSAICISM; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL;

ADULT; CELL LINE; CHILD, PRESCHOOL; CHROMOSOME BANDING; CHROMOSOME DELETION; CHROMOSOME DUPLICATION; CHROMOSOME INVERSION; CHROMOSOMES, HUMAN, PAIR 8; COMPARATIVE GENOMIC HYBRIDIZATION; FEMALE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; INFANT, NEWBORN; MALE; MOSAICISM; PHENOTYPE; PREGNANCY;

EID: 78049255484     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33669     Document Type: Letter

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