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Literature DB >> 914284

Nonmosaic 46,X,r(Y) karyotype with female phenotype.

Abstract

A nonmosaic case of ring Y chromosome is described. The patient is phenotypically female and has streak gonads. The histologic examination revealed dysgenetic seminiferous tubules in the streaks and epididymislike tubules besides them. The possibilities of the development of the phenotype and the streaks are discussed.

Entities: Species

Mesh：

Year: 1977 PMID： 914284 DOI： 10.1007/bf00402164

Source DB: PubMed Journal: Hum Genet ISSN： 0340-6717 Impact factor: 4.132

15 in total

1. 45,X-45,X, ace(?Yp)plus-46,X,r(Y) in a phenotypically normal newborn male.

Authors: U Ruthner; E Golob
Journal: Humangenetik Date: 1974-05-17

2. New technique for distinguishing between human chromosomes.

Authors: A T Sumner; H J Evans; R A Buckland
Journal: Nat New Biol Date: 1971-07-07

3. [A rare structural anomaly of the Y chromosome: Y ring (author's transl)].

Authors: E M Bühler; T Tsuchimoto; U K Bühler; G R Stalder
Journal: Arch Genet (Zur) Date: 1974

4. Structural aberrations of the Y chromosome and the corresponding phenotype. Report of a case with the karotype 45,X-46,X,i(Yp).

Authors: J W Siebers; W Vogel; H Hepp; H Bolze; A Dittrich
Journal: Humangenetik Date: 1973

5. Y ring chromosome associated with gonadoblastoma in situ.

Authors: G Khudr; K Benirschke
Journal: Obstet Gynecol Date: 1973-06 Impact factor: 7.661

6. Sex chromosome anomalies detection and fluorescence.

Authors: C Fabris; P Franceschini; G Bogetti; A Ponzone
Journal: Acta Paediatr Scand Date: 1973-05

7. Meiotic studies on a subfertile patient with a ring Y chromosome.

Authors: A C Chandley; P Edmond
Journal: Cytogenetics Date: 1971

8. Leukocytes cultured from small inocula of whole blood and the preparation of metaphase chromosomes by treatment with hypotonic KCl.

Authors: D A Hungerford
Journal: Stain Technol Date: 1965-11

9. Structural abnormalities of the Y chromosome in man.

Authors: P A Jacobs; A Ross
Journal: Nature Date: 1966-04-23 Impact factor: 49.962

10. Differential spiralization along mammalian mitotic chromosomes. II. 5-bromodeoxyuridine and 5-bromodeoxycytidine-revealed differentiation in human chromosomes.

Authors: A F Zakharov; L I Baranovskaya; A I Ibraimov; V A Benjusch; V S Demintseva; N G Oblapenko
Journal: Chromosoma Date: 1974-01-29 Impact factor: 4.316

5 in total

1. Unstable ring Y chromosome in an aspermic male.

Authors: P Steinbach; H Fabry; W Scholz
Journal: Hum Genet Date: 1979-04-05 Impact factor: 4.132

Review 2. A synopsis of the human Y chromosome.

Authors: E M Bühler
Journal: Hum Genet Date: 1980 Impact factor: 4.132

Review 3. Localisation of male determining factors in man: a thorough review of structural anomalies of the Y chromosome.

Authors: R M Davis
Journal: J Med Genet Date: 1981-06 Impact factor: 6.318

4. Body measurements of patients with streak gonads and their bearing upon the karyotype.

Authors: P Bösze; O G Eiben; M Gaál; J László
Journal: Hum Genet Date: 1980 Impact factor: 4.132

5. Unusual in vivo rearrangements of the Y chromosome with mitotic instability in vitro.

Authors: J P Fryns; J J Cassiman; H Van den Berghe
Journal: Hum Genet Date: 1978-11-16 Impact factor: 4.132

5 in total