Warning: Undefined array key "mm" in /www/wwwroot/www.ai-bt.com/si.php on line 10 Deprecated: trim(): Passing null to parameter #1 ($string) of type string is deprecated in /www/wwwroot/www.ai-bt.com/si.php on line 10 Late-replicating ring X-chromosomes identified by R-banding after BrdU pulse. Three new examples of mosaicism 45, XO/46, Xr(X).

Literature DB >> 61162

Late-replicating ring X-chromosomes identified by R-banding after BrdU pulse. Three new examples of mosaicism 45, XO/46, Xr(X).

A Hagemeijer, J Hoovers, I Hasper-Voogt, T Von Ruhe-Zurcher, D Bootsma.

Abstract

A detailed chromosome analysis was carried out in 3 patients presenting the mosaicism, 45, XO/46,Xr(X). In 2 patients, the r(X) chromosome was found to be late-replicating using R-banding techniques after a BrdU pulse administered 6 h before harvesting the leukocyte culture. The clinical symptomatology presents the great variability already observed in association with this karyotype. Only a short stature was common to the 3 patients. Case 1 is a 6-year-old girl with moderate mental retardation; case 2 is a 16-year-old girl with primary amenorrhea and absence of secondary sexual characteristics; case 3 is a 24-year-old woman whose puberty and normal sexual development occurred at age 17.

Entities: Disease Species

Mesh：

Substances：
Bromodeoxyuridine

Year: 1976 PMID： 61162 DOI： 10.1007/bf00284433

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

26 in total

1. A RING-X-CHROMOSOME IN PART OF THE SOMATIC CELLS OF A PATIENT WITH SOME CHARACTERISTICS OF THE TURNER SYNDROME.

Authors: T W HUSTINX; G B STOELINGA
Journal: Genetica Date: 1964 Impact factor: 1.082

2. A SIMPLE MICROTECHNIQUE FOR OBTAINING HUMAN CHROMOSOME PREPARATIONS WITH SOME COMMENTS ON DNA REPLICATION IN SEX CHROMOSOMES OF THE GOAT, COW AND PIG.

Authors: H J EVANS
Journal: Exp Cell Res Date: 1965-06 Impact factor: 3.905

3. Autoradiographic investigations of centric fragments and rings in patients with stigmata of gonadal dysgenesis.

Authors: M M Cohen; A A Sandberg; N Takagi; M H MacGillivray
Journal: Cytogenetics Date: 1967

4. Microfluorometric detection of deoxyribonucleic acid replication in human metaphase chromosomes.

Authors: S A Latt
Journal: Proc Natl Acad Sci U S A Date: 1973-12 Impact factor: 11.205

5. Abnormal X chromosomes in man: origin, behavior and effects.

Authors: E Therman; K Patau
Journal: Humangenetik Date: 1974

6. [Apropos of a cas of ring chromosome X].

Authors: M Deminatti; E Maillard; P Fossati; M F Bulteel
Journal: Ann Genet Date: 1968-03

7. [On a case of an X chromosome in a ring].

Authors: P Paolini; R Berger; M O Rethoré; J Lafourcade; J Lejeune
Journal: Ann Genet Date: 1966-06

8. Comparative behavior of ring chromosomes.

Authors: M L Kistenmacher; H H Punnett
Journal: Am J Hum Genet Date: 1970-05 Impact factor: 11.025

9. The nature of structural X chromosome aberrations in Turner's syndrome as revealed by quinacrine mustard fluorescence analysis.

Authors: T Caspersson; J Lindsten; L Zech
Journal: Hereditas Date: 1970 Impact factor: 3.271

Late-replicating ring X-chromosomes identified by R-banding after BrdU pulse. Three new examples of mosaicism 45, XO/46, Xr(X).

1. A RING-X-CHROMOSOME IN PART OF THE SOMATIC CELLS OF A PATIENT WITH SOME CHARACTERISTICS OF THE TURNER SYNDROME.

2. A SIMPLE MICROTECHNIQUE FOR OBTAINING HUMAN CHROMOSOME PREPARATIONS WITH SOME COMMENTS ON DNA REPLICATION IN SEX CHROMOSOMES OF THE GOAT, COW AND PIG.

3. Autoradiographic investigations of centric fragments and rings in patients with stigmata of gonadal dysgenesis.

4. Microfluorometric detection of deoxyribonucleic acid replication in human metaphase chromosomes.

5. Abnormal X chromosomes in man: origin, behavior and effects.

6. [Apropos of a cas of ring chromosome X].

7. [On a case of an X chromosome in a ring].

8. Comparative behavior of ring chromosomes.

9. The nature of structural X chromosome aberrations in Turner's syndrome as revealed by quinacrine mustard fluorescence analysis.

10. A simple R banding technic.

1. Structural aberrations of the X chromosome in man.

2. Inactivation pattern of the fragile X in heterozygous carriers.

Review 3. Small marker X chromosomes lack the X inactivation center: implications for karyotype/phenotype correlations.

4. Activity of the fragile X in heterozygous carriers.

5. Partial trisomy 21. Further evidence that trisomy of band 21q22 is essential for Down's phenotype.

6. Muscular dystrophy in an X; 1 translocation female suggests that Duchenne locus is on X chromosome short arm.