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 Women heterozygous for deficiency of the (p21 leads to pter) region of the X chromosome are fertile.

Literature DB >> 598836

Women heterozygous for deficiency of the (p21 leads to pter) region of the X chromosome are fertile.

M Fraccaro, P Maraschio, F Pasquali, S Scappaticci.

Abstract

A woman balanced carrier of a X/15 translocation gave birth to a balanced infertile son and three unbalanced Xp--fertile daughters. This family and the other eleven cases of Xp--fertile women found in the literature demonstrate that loss of the p21 leads to pter region of the X chromosome is compatible with fertility, probably because it leaves on Xp the region which is never inactivated.

Entities: Gene Species

Mesh：

Year: 1977 PMID： 598836 DOI： 10.1007/bf00295421

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

15 in total

1. DNA REPLICATION PATTERNS OF HUMAN CHROMOSOMES.

Authors: W SCHMID
Journal: Cytogenetics Date: 1963

2. Aspermia, associated with a presumably balanced X/autosomal translocation karyotype 46, Y, t (X;5) (q28;q11).

Authors: S Stengel-Rutkowski; H Zankl; A Rodewald; S Scharrer; J P Chaudhuri; K D Zang
Journal: Hum Genet Date: 1976-01-28 Impact factor: 4.132

3. X-short arm deletion gonadal dysgenesis in two siblings due to unique translocation (Xp-;16p+).

Authors: J R Davis; M W Heine; E S Lightner; H R GILES; R F Graap
Journal: Clin Genet Date: 1976-10 Impact factor: 4.438

4. [Partial deletion of the short arm of an X chromosome].

Authors: F Giraud; M Hartung; J F Mattei; Y Bachelet; M G Mattei
Journal: Arch Fr Pediatr Date: 1974 Aug-Sep

5. Unbalanced X-autosomal translocation with inactivation of the normal X chromosome.

Authors: M Mikkelsen; G Dahl
Journal: Cytogenet Cell Genet Date: 1973

6. Y to X translocation in a woman with reproductive failure. A new rearrangement.

Authors: G Khudr; K Benirschke; H L Judd; J Strauss
Journal: JAMA Date: 1973-10-29 Impact factor: 56.272

7. [Sterility and familial t (1q-;Xq+) translocation].

Authors: B Dutrillaux; J Couturier; J Rotman; J Salat; J Lejeune
Journal: C R Acad Hebd Seances Acad Sci D Date: 1972-06-12

8. [Karyotype-phenotype correlation in a 46,Xdel(X) (p22) diagnosis (author's transl)].

Authors: M Bartsch-Sandhoff; R Terinde; W Weigelmann; W Scholz
Journal: Hum Genet Date: 1976-03-12 Impact factor: 4.132

9. [Four new cases of X-autosome translocation in man (author's transl)].

Authors: C Laurent; M C Biemont; B Dutrillaux
Journal: Humangenetik Date: 1975

10. Y to X translocation in man.

Authors: H van den Berghe; P Petit; J P Fryns
Journal: Hum Genet Date: 1977-04-15 Impact factor: 4.132

37 in total

Review 1. The critical region on the human Xq.

Authors: E Therman; R Laxova; B Susman
Journal: Hum Genet Date: 1990-10 Impact factor: 4.132

Women heterozygous for deficiency of the (p21 leads to pter) region of the X chromosome are fertile.

1. DNA REPLICATION PATTERNS OF HUMAN CHROMOSOMES.

2. Aspermia, associated with a presumably balanced X/autosomal translocation karyotype 46, Y, t (X;5) (q28;q11).

3. X-short arm deletion gonadal dysgenesis in two siblings due to unique translocation (Xp-;16p+).

4. [Partial deletion of the short arm of an X chromosome].

5. Unbalanced X-autosomal translocation with inactivation of the normal X chromosome.

6. Y to X translocation in a woman with reproductive failure. A new rearrangement.

7. [Sterility and familial t (1q-;Xq+) translocation].

8. [Karyotype-phenotype correlation in a 46,Xdel(X) (p22) diagnosis (author's transl)].

9. [Four new cases of X-autosome translocation in man (author's transl)].

10. Y to X translocation in man.

Review 1. The critical region on the human Xq.

2. Unbalanced X;9 translocation in an infertile male with de novo duplication Xp22.31p22.33.

3. An isodicentric X chromosome with short arm fusion in a woman without somatic features of Turner's syndrome.

4. Clinical consequence of Xp-.

5. Clinical consequences of Xp-.

Review 6. Chromosome 15 anomalies and the Prader-Willi syndrome: cytogenetic analysis.

7. Evidence for a Turner syndrome locus or loci at Xp11.2-p22.1.

8. X-autosome translocations: cytogenetic characteristics and their consequences.

9. Translocation (X;6) in a female with Duchenne muscular dystrophy: implications for the localisation of the DMD locus.

10. Deletion of the short arm of the X chromosome: a hereditary form of Turner syndrome.