Pigmentary mosaicism following the lines of Blaschko in a girl with a double aneuploidy mosaicism: (47,XX,+7/45,X)

American Journal of Medical Genetics

Volumn 137 A, Issue 3, 2005, Pages 313-322

  Niessen, Renée C ^a   Jonkman, Marcel F ^a   Muis, Nies ^b   Hordijk, Roel ^a   Van Essen, Anthonie J ^a  

^a UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^b Bethesda General Hospital   (Netherlands)

Author keywords

Blaschko; Buphthalmos; Double aneuploidy; Hypermelanosis; Hyperpigmentation; Hypomelanosis; Hypomelanosis of Ito; Hypopigmentation; Linear and whorled hypermelanosis; Monosomy X; Mosaicism; Pigmentary dysplasia; Trisomy 7

Indexed keywords

GENOMIC DNA;

ANEUPLOIDY; ARTICLE; CASE REPORT; CHROMOSOME 10; CHROMOSOME 13; CHROMOSOME 18; CHROMOSOME 21; CHROMOSOME 7; CHROMOSOME 8; CHROMOSOME ANALYSIS; FEMALE; FIBROBLAST CULTURE; FLUORESCENCE IN SITU HYBRIDIZATION; GROWTH RETARDATION; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; HYPERPIGMENTATION; HYPOPIGMENTATION; INCONTINENTIA PIGMENTI; KARYOTYPE 45,X; LYMPHOCYTE; MENTAL DEFICIENCY; MONOSOMY X; MOSAICISM; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; PSYCHOMOTOR DEVELOPMENT; SHORT TANDEM REPEAT; SKIN BIOPSY; TRISOMY 7; X CHROMOSOME;

ANEUPLOIDY; CHROMOSOMES, HUMAN, PAIR 7; CHROMOSOMES, HUMAN, X; FEMALE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; KARYOTYPING; MICROSATELLITE REPEATS; MODELS, GENETIC; MOSAICISM; PIGMENTATION DISORDERS;

EID: 24344460810     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30876     Document Type: Article

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