Literature DB >> 844872

Klinefelter's syndrome and incontinentia pigmenti Bloch-Sulzberger.

J Kunze, U H Frenzel, E Hüttig.   

Abstract

We report a newborn with incontinentia pigmenti Bloch-Sulzberger and male phenotype. Chromosome analysis revealed a Klinefelter's syndrome 47,XXY. These findings are compatible with the hypothesis of dominant sexlinked genes carried on the X-chromosome in this disease.

Entities:  

Mesh：

Year:  1977        PMID： 844872     DOI： 10.1007/BF00393976

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


  8 in total

1.  [On the genetics of incontinentia pigmenti].

Authors:  W LENZ
Journal:  Ann Paediatr       Date:  1961

2.  [On incontinentia pigmenti and differentiation of two syndromes appearing under the same name].

Authors:  A FRANCESCHETTI; W JADASSOHN
Journal:  Dermatologica       Date:  1954-01

3.  Incontinentia pigmenti achromians.

Authors:  A Griffiths; C Payne
Journal:  Arch Dermatol       Date:  1975-06

4.  [Hypomelanosis cutis ITO (author's transl)].

Authors:  R A Pfeiffer; R Happle; G Stupperich
Journal:  Klin Padiatr       Date:  1976-03       Impact factor: 1.349

5.  Incontinentia pigmenti in a newborn boy.

Authors:  G Pallisgaard
Journal:  Acta Derm Venereol       Date:  1969       Impact factor: 4.437

6.  Incontinentia pigmenti. A world statistical analysis.

Authors:  R G Carney
Journal:  Arch Dermatol       Date:  1976-04

7.  [Ito's syndrome (incontinentia pigmenti achromians)].

Authors:  R Happle; J Krenz; R Pfeiffer
Journal:  Hautarzt       Date:  1976-06       Impact factor: 0.751

8.  FREQUENCY OF DRUMSTICKS IN NORMAL WOMEN AND IN PATIENTS WITH CHROMOSOMAL ABNORMALITIES.

Authors:  U MITTWOCH
Journal:  Nature       Date:  1964-01-18       Impact factor: 49.962
  8 in total
  7 in total

1.  Goltz syndrome: a rare case of father-to-daughter transmission.

Authors:  Vishal Gupta; Himabindu Saginatham; Sudheer Arava; Gomathy Sethuraman
Journal:  BMJ Case Rep       Date:  2016-08-16

2.  Studies of a family with incontinentia pigmenti variably expressed in both sexes.

Authors:  T W Kurczynski; J S Berns; W E Johnson
Journal:  J Med Genet       Date:  1982-12       Impact factor: 6.318

3.  Diaphragmatic hernia in a female newborn with focal dermal hypoplasia and marked asymmetric malformations (Goltz-Gorlin syndrome).

Authors:  J Kunze; K Heyne; H R Wiedemann
Journal:  Eur J Pediatr       Date:  1979-06-28       Impact factor: 3.183

4.  Survival of male patients with incontinentia pigmenti carrying a lethal mutation can be explained by somatic mosaicism or Klinefelter syndrome.

Authors:  S Kenwrick; H Woffendin; T Jakins; S G Shuttleworth; E Mayer; L Greenhalgh; J Whittaker; S Rugolotto; T Bardaro; T Esposito; M D'Urso; F Soli; A Turco; A Smahi; D Hamel-Teillac; S Lyonnet; J P Bonnefont; A Munnich; S Aradhya; C D Kashork; L G Shaffer; D L Nelson; M Levy; R A Lewis
Journal:  Am J Hum Genet       Date:  2001-10-22       Impact factor: 11.025

5.  Incontinentia pigmenti in a boy with Klinefelter's syndrome.

Authors:  A D Ormerod; M I White; E McKay; A W Johnston
Journal:  J Med Genet       Date:  1987-07       Impact factor: 6.318

6.  X-linked dominant inherited diseases with lethality in hemizygous males.

Authors:  R Wettke-Schäfer; G Kantner
Journal:  Hum Genet       Date:  1983       Impact factor: 4.132

Review 7.  Human Genetic Diseases Linked to the Absence of NEMO: An Obligatory Somatic Mosaic Disorder in Male.

Authors:  Alessandra Pescatore; Ezia Spinosa; Carmela Casale; Maria Brigida Lioi; Matilde Valeria Ursini; Francesca Fusco
Journal:  Int J Mol Sci       Date:  2022-01-21       Impact factor: 5.923
  7 in total

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