Phenotypic expression of tissue mosaicism in a 45,X/46,X,dicY(q11.2) female

American Journal of Medical Genetics

Volumn 102, Issue 4, 2001, Pages 318-323

  Udler, Yevgenia ^a   Kauschansky, Arieh ^b   Yeshaya, Josepha ^c   Freedman, Jane ^d   Barkai, Uriel ^a   Tobar, Ana ^a   Okon, Elimelech ^a   Halpern, Gabrielle J ^b   Shohat, Mordechai ^c   Legum, Cyril ^d  

^a RABIN MEDICAL CENTER   (Israel)

^b SCHNEIDER CHILDREN S MEDICAL CENTER OF ISRAEL   (Israel)

^c TEL AVIV UNIVERSITY   (Israel)

^d Biological Industries ^*  (Israel)

Author keywords

Dicentric Y chromosome; FISH; Histology; Molecular studies; Mosaicism

Indexed keywords

ARTICLE; CASE REPORT; CHROMOSOME ANALYSIS; CHROMOSOME MOSAICISM; CHROMOSOME STRUCTURE; DICENTRIC CHROMOSOME; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GONAD FUNCTION; HUMAN; MOSAICISM; PHENOTYPE; PRIORITY JOURNAL; SCHOOL CHILD; SHORT STATURE; TURNER SYNDROME; Y CHROMOSOME;

CHILD; CHROMOSOMES, HUMAN, PAIR 11; CYTOGENETIC ANALYSIS; FEMALE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MOSAICISM; PHENOTYPE; TRANSLOCATION, GENETIC; X CHROMOSOME; Y CHROMOSOME;

EID: 0035451915     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.1456     Document Type: Article

References (13)

1. Dicentric I(Yq) chromosome and azoospermia
2. Identification of Y chromatin directly in gonadal tissue by fluorescence in situ hybridization (FISH): Significance for Ullrich-Turner syndrome screening in the cytogenetics laboratory
3. Turner's syndrome mosaicism in patients with a normal blood lymphocyte karyotype
4. Genetic evidence equating SRY and the testis-determining factor
5. Localisation of male determining factors in man: A thorough review of structural anomalies of the Y chromosome
6. Abnormalities of human sex determination
7. Dicentric chromosome Y associated with Leydig cell agenesis and sex reversal
8. Müllerian inhibiting substance: A gonadal hormone with multiple function
9. Exchange of terminal portions of X- and Y-chromosomal short arms in human XY females
10. An infant with a mosaic 45X/46,X,psu dic (Y) (pter→q11.2::q11.2→pter) karyotype and mixed gonadal dysgenesis studied for extent of mosaicism in the gonads
11. Severe oligozoospermia resulting from deletions of azoospermia factor gene on Y chromosome
12. New solutions to an ancient riddle: Defining the differences between Adam and Eve
13. Isodicentric Y chromosome: Cytogenetic, molecular and clinical studies and review of the literature