Evidence of a mechanism for isodicentric chromosome Y formation in a 45,X/46,X,idic(Y)(p11.31)/46,X,del(Y)(p11.31) mosaic karyotype

European Journal of Medical Genetics

Volumn 54, Issue 2, 2011, Pages 161-164

  Reshmi, Shalini C ^a,b   Miller, Jennifer L ^a   Deplewski, Dianne ^a   Close, Clare ^a   Henderson, Leslie J ^a   Littlejohn, Elizabeth ^a   Schwartz, Stuart ^c   Waggoner, Darrel J ^a  

^a UNIVERSITY OF CHICAGO   (United States)

^b NATIONWIDE CHILDREN S HOSPITAL   (United States)

^c LABORATORY CORPORATION OF AMERICA   (United States)

Author keywords

Ambiguous genitalia; Chromosome Y deletion; Gonadal mosaicism; Isodicentric Y; Mosaic karyotype; Turner syndrome

Indexed keywords

ARTICLE; CASE REPORT; CHILD; CHROMOSOME ANALYSIS; CHROMOSOME BANDING PATTERN; CHROMOSOME BREAKAGE; CHROMOSOME DELETION Y; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; HUMAN CELL; HUMAN CELL CULTURE; KARYOTYPE 45,X; PHENOTYPE; PRESCHOOL CHILD; SEX CHROMOSOME MOSAICISM; TURNER SYNDROME;

CHILD, PRESCHOOL; CHROMOSOME ABERRATIONS; CHROMOSOMES, HUMAN, Y; FEMALE; HUMANS; KARYOTYPING; MOSAICISM; SEX CHROMOSOME ABERRATIONS; TURNER SYNDROME;

EID: 79952488322     PISSN: 17697212     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ejmg.2010.11.002     Document Type: Article

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