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Literature DB >> 2894760

Cytogenetic and molecular analysis of sex-chromosome monosomy.

Abstract

X chromosome- and Y chromosome-specific DNA probes were used to study different aspects of the genesis of sex-chromosome monosomy. Using X-linked RFLPs, we studied the parental origin of the single X chromosome in 35 spontaneously aborted and five live-born 45,X conceptions. We determined the origin in 35 cases; 28 had a maternal X (Xm) and seven had a paternal X (Xp). There was a correlation between parental origin and parental age, with the Xp category having a significantly reduced mean maternal age by comparison with the Xm group. Studies aimed at detecting mosaicism demonstrated the presence of a Y chromosome or a second X chromosome in three of 33 spontaneous abortions, a level of mosaicism much lower than that reported for live-born Turner syndrome individuals.

Entities: Disease

Mesh：

Substances：
DNA

Year: 1988 PMID： 2894760 PMCID： PMC1715233

Source DB: PubMed Journal: Am J Hum Genet ISSN： 0002-9297 Impact factor: 11.025

13 in total

1. Detection of specific sequences among DNA fragments separated by gel electrophoresis.

Authors: E M Southern
Journal: J Mol Biol Date: 1975-11-05 Impact factor: 5.469

2. Xg groups and sex chromosome abnormalities in people of northern European ancestry: an addendum.

Authors: R Sanger; P Tippett; J Gavin; P Teesdale; G L Daniels
Journal: J Med Genet Date: 1977-06 Impact factor: 6.318

3. Labeling deoxyribonucleic acid to high specific activity in vitro by nick translation with DNA polymerase I.

Authors: P W Rigby; M Dieckmann; C Rhodes; P Berg
Journal: J Mol Biol Date: 1977-06-15 Impact factor: 5.469

4. An improved method for detecting Y chromosomal DNA.

Authors: J R Stalvey; R P Erickson
Journal: Hum Genet Date: 1987-07 Impact factor: 4.132

5. Monosomy X: a chromosomal anomaly associated with young maternal age.

Authors: D Warburton; J Kline; Z Stein; M Susser
Journal: Lancet Date: 1980-01-26 Impact factor: 79.321

6. Exclusion of chromosomal mosaicism: tables of 90%, 95% and 99% confidence limits and comments on use.

Authors: E B Hook
Journal: Am J Hum Genet Date: 1977-01 Impact factor: 11.025

7. A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity.

Authors: A P Feinberg; B Vogelstein
Journal: Anal Biochem Date: 1983-07-01 Impact factor: 3.365

8. The distribution of chromosomal genotypes associated with Turner's syndrome: livebirth prevalence rates and evidence for diminished fetal mortality and severity in genotypes associated with structural X abnormalities or mosaicism.

Authors: E B Hook; D Warburton
Journal: Hum Genet Date: 1983 Impact factor: 4.132

9. Source of single X in XO Turner syndrome: a comment.

Authors: P Tippett; R Sanger
Journal: Hum Genet Date: 1985 Impact factor: 4.132

10. A cytogenetic study of 1000 spontaneous abortions.

Authors: T Hassold; N Chen; J Funkhouser; T Jooss; B Manuel; J Matsuura; A Matsuyama; C Wilson; J A Yamane; P A Jacobs
Journal: Ann Hum Genet Date: 1980-10 Impact factor: 1.670

37 in total

1. A molecular and FISH analysis of structurally abnormal Y chromosomes in patients with Turner syndrome.

Authors: D O Robinson; P Dalton; P A Jacobs; K Mosse; M M Power; D H Skuse; J A Crolla
Journal: J Med Genet Date: 1999-04 Impact factor: 6.318

2. Extensive analysis of mosaicism in a case of Turner syndrome: the experience of 287 cytogenetic laboratories. College of American Pathologists/American College of Medical Genetics Cytogenetics Resource Committee.

Authors: J P Park; A R Brothman; M G Butler; L D Cooley; G W Dewald; K F Lundquist; C G Palmer; S R Patil; K W Rao; I A Saikevych; N R Schneider; G H Vance
Journal: Arch Pathol Lab Med Date: 1999-05 Impact factor: 5.534

3. Oocyte selection: a new model for the maternal-age dependence of Down syndrome.

Authors: C J Zheng; B Byers
Journal: Hum Genet Date: 1992 Sep-Oct Impact factor: 4.132

4. Molecular studies of parental origin and mosaicism in 45,X conceptuses.

Authors: T Hassold; D Pettay; A Robinson; I Uchida
Journal: Hum Genet Date: 1992-08 Impact factor: 4.132

5. Molecular studies of non-disjunction in trisomy 16.

Authors: T J Hassold; D Pettay; S B Freeman; M Grantham; N Takaesu
Journal: J Med Genet Date: 1991-03 Impact factor: 6.318

6. Analysis of the origin of Turner's syndrome using polymorphic DNA probes.

Authors: S A Loughlin; A Redha; J McIver; E Boyd; A Carothers; J M Connor
Journal: J Med Genet Date: 1991-03 Impact factor: 6.318

7. The parental origin of the single X chromosome in Turner syndrome: lack of correlation with parental age or clinical phenotype.

Authors: A Mathur; L Stekol; D Schatz; N K MacLaren; M L Scott; B Lippe
Journal: Am J Hum Genet Date: 1991-04 Impact factor: 11.025