FISH, PCR and cytogenetic characterization in a girl with ambiguous genitalia and karyotype mos46,X,iso(Y)(qter→p11.3::p11.3→qter)[80]/45, X[17]/46,X,+mar[3]

Genetics and Molecular Research

Volumn 7, Issue 4, 2008, Pages 1089-1096

  Pereira, S R F ^a   Pereira, A C N ^a   Souza, M T V L ^a   Ramos, M R B P ^a  

^a FEDERAL UNIVERSITY OF MARANHÃO   (Brazil)

Author keywords

Ambiguous genitalia; Mosaicism; SRY gene; Y isochromosome

Indexed keywords

ARTICLE; CASE REPORT; CHROMOSOMAL INSTABILITY; CHROMOSOME ABERRATION; CHROMOSOME ANALYSIS; CHROMOSOME ARM; CHROMOSOME MUTATION; EMBRYO DEVELOPMENT; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DUPLICATION; GENE IDENTIFICATION; GENITAL MALFORMATION; GONADOBLASTOMA; HUMAN; HUMAN CELL; ISOCHROMOSOME; ISOCHROMOSOME X; ISOCHROMOSOME Y; KARYOTYPE 46,XY; MITOSIS; MOLECULAR PROBE; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; SEX CHROMOSOME MOSAICISM; SEX DIFFERENTIATION; SRY GENE; VIRILIZATION; X CHROMOSOME; Y CHROMOSOME;

CHROMOSOMES, HUMAN, X; CHROMOSOMES, HUMAN, Y; CYTOGENETIC ANALYSIS; FEMALE; GENES, SRY; GENITALIA; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; ISOCHROMOSOMES; MOSAICISM; POLYMERASE CHAIN REACTION; RNA-BINDING PROTEINS; SEX CHROMOSOME ABERRATIONS; SPECTRAL KARYOTYPING; VIRILISM;

EID: 56749185545     PISSN: None     EISSN: 16765680     Source Type: Journal    
DOI: 10.4238/vol7-4gmr483     Document Type: Article

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