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Literature DB >> 7120321

X long arm deletion with oligomenorrhoea.

K Mijin, E Stolević, S Adzić, Z Laća, S Marković.

Abstract

A 35-year-old female patient with oligomenorrhoea had a deletion of the long arm of the X chromosome. The breakpoint at band q23 caused infertility in spite of excessive pituitary stimulation. The aberrant X chromosome was inactivated in all cells analysed.

Entities: Disease Species

Mesh：

Year: 1982 PMID： 7120321 PMCID： PMC1048901 DOI： 10.1136/jmg.19.4.305

Source DB: PubMed Journal: J Med Genet ISSN： 0022-2593 Impact factor: 6.318

11 in total

1. Deletion mapping of the human X chromosome.

Authors: A de la Chapelle; J Schröder; T Haahtela; P Aro
Journal: Hereditas Date: 1975 Impact factor: 3.271

2. Short arm deletion of an X chromosome, 46,XXp-.

Authors: P Kaiser; B Zabel; S Hansen; E Daume
Journal: Hum Genet Date: 1976-04-15 Impact factor: 4.132

Review 3. X-autosome translocations: a review.

Authors: R L Summitt; R E Tipton; R S Wilroy; P R Martens; J P Phelan
Journal: Birth Defects Orig Artic Ser Date: 1978

1. Sex chromosome aberrations and stature: deduction of the principal factors involved in the determination of adult height.

Authors: T Ogata; N Matsuo
Journal: Hum Genet Date: 1993-07 Impact factor: 4.132

2. X long-arm deletions. A review of non-mosaic cases studied with banding techniques.

Authors: L Skibsted; H Westh; E Niebuhr
Journal: Hum Genet Date: 1984 Impact factor: 4.132

3. The similarity of phenotypic effects caused by Xp and Xq deletions in the human female: a hypothesis.

Authors: E Therman; B Susman
Journal: Hum Genet Date: 1990-07 Impact factor: 4.132

Review 4. Turner syndrome and female sex chromosome aberrations: deduction of the principal factors involved in the development of clinical features.

Authors: T Ogata; N Matsuo
Journal: Hum Genet Date: 1995-06 Impact factor: 4.132

4 in total

X long arm deletion with oligomenorrhoea.

1. Deletion mapping of the human X chromosome.

2. Short arm deletion of an X chromosome, 46,XXp-.

Review 3. X-autosome translocations: a review.

4. A case of long arm deletion of the X chromosome in a patient with secondary amenorrhea.

5. Center for Barr body condensation on the proximal part of the human Xq: a hypothesis.

6. Fluorescence and autoradiographic studies in patients with Turner's syndrome and 46,XXp- and 46,XXq- karyotypes.

7. [Staining of human chromosomes with acridine orange after treatment with 5 bromodeoxyuridine].

8. A rapid banding technique for human chromosomes.

9. Somatic stigmata of Turner's syndrome in a patient with 46,XXq-.

10. Xq- Turner's syndrome: reconsideration of hypothesis that Xp- causes somatic features in Turner's syndrome.

1. Sex chromosome aberrations and stature: deduction of the principal factors involved in the determination of adult height.

2. X long-arm deletions. A review of non-mosaic cases studied with banding techniques.

3. The similarity of phenotypic effects caused by Xp and Xq deletions in the human female: a hypothesis.

Review 4. Turner syndrome and female sex chromosome aberrations: deduction of the principal factors involved in the development of clinical features.