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Literature DB >> 1262028

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

Abstract

A 27-year-old patient of short stature with primary amenorrhea and other slight Turner signs showed a 46,XX,del(X) (qter leads to p11:) karyotype, identified by a combination of fluorescence and giemsa-banding technique. By BUdR incorporation the deleted X chromosome was shown to be the late replicating one.

Entities: Disease Gene Species

Mesh：

Year: 1976 PMID： 1262028 DOI： 10.1007/BF00569982

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

20 in total

1. CYTOGENETIC AND CLINICAL FINDINGS IN 48 PATIENTS WITH CONGENITALLY DEFECTIVE OR ABSENT OVARIES.

Authors: E ENGEL; A P FORBES
Journal: Medicine (Baltimore) Date: 1965-03 Impact factor: 1.889

2. Evidence that the Xg blood group genes are on the short arm of the X chromosome.

Authors: J LINDSTEN; M FRACCARO; P E POLANI; J L HAMERTON; R SANGER; R R RACE
Journal: Nature Date: 1963-02-16 Impact factor: 49.962

3. Presumptive iso-chromosomes for the long arm of X in man. Analysis of five families.

Authors: J LINDSTEN; M FRACCARO; D IKKOS; K KAIJSER; H P KLINGER; R LUFT
Journal: Ann Hum Genet Date: 1963-06 Impact factor: 1.670

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

Authors: K Boczkowski; M Mikkelsen
Journal: J Med Genet Date: 1973-12 Impact factor: 6.318

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

Authors: B Dutrillaux; C Laurent; J Couturier; J Lejeune
Journal: C R Acad Hebd Seances Acad Sci D Date: 1973-06-13

6. [On a case of XXdc ovarian dysgenesis].

Authors: J Lejeune; J M Doumic; R Berger; M O Rethoré
Journal: Ann Genet Date: 1966-09

7. Letter: Cytogenetic evidence for evolution of X-chromosome inactivation.

Authors: J J Hoo
Journal: Lancet Date: 1975-06-07 Impact factor: 79.321

8. Letter: Double deletion of X chromosome.

Authors: T Koske-Westphal; R E Seel; E Passarge
Journal: Lancet Date: 1974-12-28 Impact factor: 79.321

9. Apparent deletion of X chromosome in a prepuberal girl.

Authors: E Steinberger; A Steinberger; K D Smith; W H Perloff
Journal: J Med Genet Date: 1966-09 Impact factor: 6.318

10. [Morphologically abnormal X-chromosomes].

Authors: E Golob; P Fischer; E Kunze-Mühl
Journal: Dtsch Med Wochenschr Date: 1967-01-13 Impact factor: 0.628

16 in total

1. Down and Turner syndromes in a female infant with 47,X,del(X)(p11),+21.

Authors: J T Martsolf; M Ray; F Bauder; R Boychuk; J D Armstrong
Journal: Hum Genet Date: 1977-11-02 Impact factor: 4.132

2. Short-arm deletion of an X chromosome (45,XO/46,XX p--).

Authors: P Kaiser; K Gerhard-Ratschow; B Zabel; E Daume
Journal: Hum Genet Date: 1977-06-10 Impact factor: 4.132

3. A case of Turner's syndrome, with apparently normal sex chromatin and chromosome findings.

Authors: M G Butler; C T Todd; J D Eisen
Journal: Nebr Med J Date: 1979-05

4. 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