Literature DB >> 2001114

45,X/46,X dic (Y) mosaicism in a phenotypic male.

P J Batstone1, M J Faed, R T Jung, J Gosden.   

Abstract

Cytogenetic analysis, confirmed by in situ hybridisation studies, showed a mosaic 45,X/46,X dic (Y) (q12) karyotype in a 14 year old boy who was initially diagnosed as having Noonan's syndrome. He made an early response to recombinant growth hormone; this suggests that this treatment may improve final height.

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Year:  1991        PMID： 2001114      PMCID： PMC1792831          DOI： 10.1136/adc.66.2.252

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


  5 in total

Review 1.  Update on growth hormone therapy for Turner's syndrome.

Authors:  R G Rosenfeld
Journal:  Acta Paediatr Scand Suppl       Date:  1989

2.  Phenotypic spectrum of 45,X/46,XY individuals.

Authors:  C Rosenberg; O Frota-Pessoa; A M Vianna-Morgante; T H Chu
Journal:  Am J Med Genet       Date:  1987-07

3.  Clinical and endocrine spectrum in patients with the 45,X/46,XY karyotype.

Authors:  S Kofman; G Pérez-Palacios; M Medina; N Escobar; M García; L Ruz; O Mutchinick; R Lisker
Journal:  Hum Genet       Date:  1981       Impact factor: 4.132

4.  Nonfluorescent Y chromosomes. Cytologic evidence of origin.

Authors:  E Magenis; T Donlon
Journal:  Hum Genet       Date:  1982       Impact factor: 4.132

5.  Gonadoblastoma and Y-chromosome fluorescence.

Authors:  T Lukusa; J P Fryns; H van den Berghe
Journal:  Clin Genet       Date:  1986-04       Impact factor: 4.438
  5 in total
  4 in total

1.  A clinical study of Noonan syndrome.

Authors:  M Sharland; M Burch; W M McKenna; M A Paton
Journal:  Arch Dis Child       Date:  1992-02       Impact factor: 3.791

2.  Defective growth hormone (GH) secretion and short-term treatment in Noonan syndrome.

Authors:  A T Soliman; A Rajab; M el Zalabany; I alSalmi; M A Fattah
Journal:  Indian J Pediatr       Date:  1998 Sep-Oct       Impact factor: 1.967

Review 3.  Isodicentric Y chromosome: cytogenetic, molecular and clinical studies and review of the literature.

Authors:  C M Tuck-Muller; H Chen; J E Martínez; C C Shen; S Li; C Kusyk; D A Batista; Y M Bhatnagar; E Dowling; W Wertelecki
Journal:  Hum Genet       Date:  1995-07       Impact factor: 4.132

4.  Hypospadias in a male infant with an unusual mosaic 45,X/46,X,psu idic(Y)(p11.32)/46,XY and haploinsufficiency of SHOX: A case report.

Authors:  Yan-Mei Si; Yuan Dong; Wei Wang; Ke-Yan Qi; Xin Wang
Journal:  Mol Med Rep       Date:  2017-05-10       Impact factor: 2.952
  4 in total

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