Literature DB >> 2782935

Absence of Y specific DNA sequences in two siblings with 46XX hermaphroditism.

J Raine1, M E Robertson, S Malcolm, H Hoey, D B Grant.   

Abstract

We report two siblings with 46XX hermaphroditism in whom we were unable to show the presence of Y specific DNA sequences using the DNA probes Y-190, GMGY-7, pHY2.1, pDP34, and 27a. We conclude that an autosomal or X chromosome gene mutation is the most likely mechanism of inheritance in this family with 46XX hermaphroditism.

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Year:  1989        PMID： 2782935      PMCID： PMC1792515          DOI： 10.1136/adc.64.8.1185

Source DB:  PubMed          Journal:  Arch Dis Child        ISSN： 0003-9888            Impact factor:   3.791


  6 in total

1.  Familial true hermaphrodism in pre- and postpuberal genetic females; hormonal and morphologic studies.

Authors:  G W CLAYTON; J D SMITH; H S ROSENBERG
Journal:  J Clin Endocrinol Metab       Date:  1958-12       Impact factor: 5.958

Review 2.  Genes on the X and Y chromosomes controlling sex.

Authors:  M A Ferguson-Smith
Journal:  BMJ       Date:  1988-09-10

3.  Mapping the testis determinants by an analysis of Y-specific sequences in males with apparent XX and XO karyotypes and females with XY karyotypes.

Authors:  N A Affara; M A Ferguson-Smith; R E Magenis; J L Tolmie; E Boyd; A Cooke; D Jamieson; K Kwok; M Mitchell; L Snadden
Journal:  Nucleic Acids Res       Date:  1987-09-25       Impact factor: 16.971

4.  Isolation of a sequence which maps close to the human sex determining gene.

Authors:  C A Pritchard; P J Goodfellow; P N Goodfellow
Journal:  Nucleic Acids Res       Date:  1987-08-11       Impact factor: 16.971

5.  Familial 46,XX males coexisting with familial 46,XX true hermaphrodites in same pedigree.

Authors:  N A Skordis; D G Stetka; M H MacGillivray; S P Greenfield
Journal:  J Pediatr       Date:  1987-02       Impact factor: 4.406

6.  The sex-determining region of the human Y chromosome encodes a finger protein.

Authors:  D C Page; R Mosher; E M Simpson; E M Fisher; G Mardon; J Pollack; B McGillivray; A de la Chapelle; L G Brown
Journal:  Cell       Date:  1987-12-24       Impact factor: 41.582
  6 in total
  3 in total

Review 1.  True hermaphroditism: geographical distribution, clinical findings, chromosomes and gonadal histology.

Authors:  G Krob; A Braun; U Kuhnle
Journal:  Eur J Pediatr       Date:  1994-01       Impact factor: 3.183

2.  The role of the sex-determining region of the Y chromosome (SRY) in the etiology of 46,XX true hermaphroditism.

Authors:  G D Berkovitz; P Y Fechner; S M Marcantonio; G Bland; G Stetten; P N Goodfellow; K D Smith; C J Migeon
Journal:  Hum Genet       Date:  1992-02       Impact factor: 4.132

3.  Characterization of Fam20C expression in odontogenesis and osteogenesis using transgenic mice.

Authors:  Er-Xia Du; Xiao-Fang Wang; Wu-Chen Yang; Deborah Kaback; Siu-Pok Yee; Chun-Lin Qin; Anne George; Jian-Jun Hao
Journal:  Int J Oral Sci       Date:  2015-06-26       Impact factor: 6.344
  3 in total

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