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Literature DB >> 1150238

[45,X/46,SYq dic-Sexchromosome mosaic].

R O Frey, E M Bühler, U K Bühler, G R Stalder.

Abstract

This is the report on an obese girl with small stature and sexual infantilism. A 45,X/46,XYq dic mosaic was found in blood and fibroblast cultures. A summary is given of the cases so far reported in the literature. The clinical picture does not differ significantly from that of 45,X/46,XY cases. The relationship of phenotype and structural abnormalities of the Y chromosome is discussed.

Entities: Disease Species

Mesh：

Substances：
Quinacrine

Year: 1975 PMID： 1150238

Source DB: PubMed Journal: Humangenetik ISSN： 0018-7348

23 in total

Review 1. KARYOTYPE-PHENOTYPE CORRELATIONS IN GONADAL DYSGENESIS AND THEIR BEARING ON THE PATHOGENESIS OF MALFORMATIONS.

Authors: M A FERGUSON-SMITH
Journal: J Med Genet Date: 1965-06 Impact factor: 6.318

2. A probable partial deletion of the Y chromosome in an intersex patient.

Authors: P E CONEN; J D BAILEY; W H ALLEMANG; D W THOMPSON; C EZRIN
Journal: Lancet Date: 1961-08-05 Impact factor: 79.321

3. Chromosome studies on testicular cells from 50 subfertile men.

Authors: M E McIlree; W H Price; W M Brown; W S Tulloch; J E Newsam; N Maclean
Journal: Lancet Date: 1966-07-09 Impact factor: 79.321

4. Definitive evidence for the short arm of the Y chromosome associating with the X chromosome during miosis in the human male.

Authors: P L Pearson; M Bobrow
Journal: Nature Date: 1970-06-06 Impact factor: 49.962

5. Mitotic behavior of a human dicentric Y chromosome.

Authors: K L Ying; E J Ives
Journal: Cytogenetics Date: 1971

6. [Male pseudohermaphroditism and mosaicism 45,X-46,XYdic-46,XXq-].

Authors: R Boschetti; A Gilbertas; B Noel; B Quack
Journal: Ann Genet Date: 1968-03

7. [A case of dicentric Y in a male pseudohermaphrodite with complex gonosomal mosaicism].

Authors: P Jalbert; A Convert; C Mouriquand; J Malka
Journal: Ann Genet Date: 1969-12

8. Isochromosome for long arm of Y chromosome in patient with Turner's syndrome and sex chromosome mosaicism (45,X-46,XYqi).

Authors: M A Ferguson-Smith; E Boyd; M E Ferguson-Smith; J G Pritchard; A F Yusuf; B Gray
Journal: J Med Genet Date: 1969-12 Impact factor: 6.318

9. Chemical differentiation along metaphase chromosomes.

Authors: T Caspersson; S Farber; G E Foley; J Kudynowski; E J Modest; E Simonsson; U Wagh; L Zech
Journal: Exp Cell Res Date: 1968-01 Impact factor: 3.905

10. Isochromosome-X in man. I.

Authors: A De la Chapelle; J Wennström; H Hortling; C H Ockey
Journal: Hereditas Date: 1966 Impact factor: 3.271

7 in total

1. Four new cases of Dicentric Y chromosomes.

Authors: F Giraud; J F Mattei; C Lucas; M G Mattei
Journal: Hum Genet Date: 1977-05-10 Impact factor: 4.132

2. Two dicentric Y isochromosomes, one without and the Yqh heterochromatic segment: review of the Y isochromosomes.

Authors: A Daniel; N Lyons; J H Casey; L Gras
Journal: Hum Genet Date: 1980 Impact factor: 4.132

Review 3. A synopsis of the human Y chromosome.

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

Review 4. 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