Literature DB >> 3455922

A case of female hemophilia with a 46,XXr karyotype studied with X-chromosome DNA probes.

S Gilgenkrantz, M E Briquel, J L Mandel, I Oberle.   

Abstract

A case of female hemophilia with a 46,XXr/45,X karyotype and signs of Turner syndrome, has been followed for the past 10 years. One of her brothers also has hemophilia A. A study with polymorphic DNA probes located in the Xq27-qter region has enabled us to demonstrate that the ring chromosome is of paternal origin and that the factor VIII gene region is deleted. The hemizygous state allowed expression of the hemophilia A mutation, present on the morphologically normal X chromosome, inherited from her carrier mother.

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Year:  1986        PMID： 3455922     DOI： 10.1007/BF00283936

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


  7 in total

1.  The telomeric region of the human X chromosome long arm: presence of a highly polymorphic DNA marker and analysis of recombination frequency.

Authors:  I Oberlé; D Drayna; G Camerino; R White; J L Mandel
Journal:  Proc Natl Acad Sci U S A       Date:  1985-05       Impact factor: 11.205

2.  [Haemophilia A in a girl with deletion of a part of the long arm of one X chromosome (author's transl)].

Authors:  M Samama; C Perrotez; R Houissa; A Hafsia; J Seger
Journal:  Pathol Biol (Paris)       Date:  1977-12

3.  Hemophilia B in a phenotypically normal girl with XX (ring) XO mosaicism.

Authors:  J Neuschatz; T F Necheles
Journal:  Acta Haematol       Date:  1973       Impact factor: 2.195

4.  Variant of factor IX deficiency in female with 45, X Turner's syndrome.

Authors:  T C Bithell; A Pizarro; W D MacDiarmid
Journal:  Blood       Date:  1970-08       Impact factor: 22.113

5.  Hemophilia A in a phenotypically normal female with XX-XO mosaicism.

Authors:  G S Gilchrist; D Hammond; J Melnyk
Journal:  N Engl J Med       Date:  1965-12-23       Impact factor: 91.245

6.  Carrier detection of Hemophilia B by using a restriction site polymorphism associated with the coagulation Factor IX gene.

Authors:  L Grunebaum; J P Cazenave; G Camerino; C Kloepfer; J L Mandel; P Tolstoshev; M Jaye; H De la Salle; J P Lecocq
Journal:  J Clin Invest       Date:  1984-05       Impact factor: 14.808

7.  Haemophilia 'A' in a 46,X,i(Xq) female.

Authors:  P G Mori; M Pasino; C R Vadalà; M C Bisogni; G P Tonini; S Scarabicchi
Journal:  Br J Haematol       Date:  1979-09       Impact factor: 6.998
  7 in total
  3 in total

Review 1.  Alport syndrome, basement membranes and collagen.

Authors:  C E Kashtan; M M Kleppel; R J Butkowski; A F Michael; A J Fish
Journal:  Pediatr Nephrol       Date:  1990-09       Impact factor: 3.714

2.  Dual diagnoses in 152 patients with Turner syndrome: Knowledge of the second condition may lead to modification of treatment and/or surveillance.

Authors:  Kelly L Jones; Erin A McNamara; Mauro Longoni; Danny E Miller; Mersedeh Rohanizadegan; Laura A Newman; Frances Hayes; Lynne L Levitsky; Betty L Herrington; Angela E Lin
Journal:  Am J Med Genet A       Date:  2018-08-06       Impact factor: 2.802

3.  Myotubular myopathy in a girl with a deletion at Xq27-q28 and unbalanced X inactivation assigns the MTM1 gene to a 600-kb region.

Authors:  N Dahl; L J Hu; M Chery; M Fardeau; S Gilgenkrantz; A Nivelon-Chevallier; I Sidaner-Noisette; F Mugneret; J B Gouyon; A Gal
Journal:  Am J Hum Genet       Date:  1995-05       Impact factor: 11.025
  3 in total

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