Women heterozygous for deficiency of the (p21 leads to pter) region of the X chromosome are fertile.
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.
15 references, click to expand
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Y to X translocation in man.Hum Genet. 1977 Apr 15;36(2):129-41 PMID: 858625
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[Karyotype-phenotype correlation in a 46,Xdel(X) (p22) diagnosis (author's transl)].Hum Genet. 1976 Mar 12;31(3):263-70 PMID: 955625
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[Four new cases of X-autosome translocation in man (author's transl)].Humangenetik. 1975;26(1):35-46 PMID: 50265
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Y to X translocation in a woman with reproductive failure. A new rearrangement.JAMA. 1973 Oct 29;226(5):544-9 PMID: 4126829
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[Partial deletion of the short arm of an X chromosome].Arch Fr Pediatr. 1974 Aug-Sep;31(7):717-24 PMID: 4447435
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Unbalanced X-autosomal translocation with inactivation of the normal X chromosome.Cytogenet Cell Genet. 1973;12(5):357-66 PMID: 4131091
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[Sterility and familial t (1q-;Xq+) translocation].C R Acad Sci Hebd Seances Acad Sci D. 1972 Jun 12;274(24):3324-7 PMID: 4626028
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DNA REPLICATION PATTERNS OF HUMAN CHROMOSOMES.Cytogenetics. 1963;2:175-93 PMID: 14101501
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Aspermia, associated with a presumably balanced X/autosomal translocation karyotype 46, Y, t (X;5) (q28;q11).Hum Genet. 1976 Jan 28;31(1):97-106 PMID: 1248827
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X-short arm deletion gonadal dysgenesis in two siblings due to unique translocation (Xp-;16p+).Clin Genet. 1976 Oct;10(4):202-7 PMID: 975595
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An inherited X-autosome translocation in man.Ann Hum Genet. 1971 Oct;35(2):171-8 PMID: 5159532
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A possible active segment on the inactive human X chromosome.Chromosoma. 1976 Dec 16;59(2):137-45 PMID: 1009814
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Nullisomy for the distal portion of Xp in a male child with a X/Y translocation.Hum Genet. 1977 Dec 23;39(3):277-81 PMID: 598835
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X chromosomes attached by their long arm: replication autonomy of the short arm adjacent to the inactive centromere.Ann Genet. 1977 Sep;20(3):179-83 PMID: 304701
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Familial x/x translocation: t(x;x)(p22;q13)Cytogenet Cell Genet. 1974;13(5):454-64 PMID: 4462981
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