Literature DB >> 3612722

Incontinentia pigmenti in a boy with Klinefelter's syndrome.

A D Ormerod, M I White, E McKay, A W Johnston.   

Abstract

A boy with the cutaneous lesions of incontinentia pigmenti is described. Chromosomal analysis revealed the 47,XXY karyotype of Klinefelter's syndrome. Since incontinentia pigmenti trait is usually lethal in males, the possibility of the second X chromosome protecting against fetal death is discussed.

Entities:  

Mesh：

Year:  1987        PMID： 3612722      PMCID： PMC1050156          DOI： 10.1136/jmg.24.7.439

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  8 in total

1.  Klinefelter's syndrome and incontinentia pigmenti Bloch-Sulzberger.

Authors:  J Kunze; U H Frenzel; E Hüttig
Journal:  Hum Genet       Date:  1977-02-11       Impact factor: 4.132

2.  The half chromatid mutation model and bidirectional mutation in incontinentia pigmenti.

Authors:  F Hecht; B K Hecht
Journal:  Clin Genet       Date:  1983-09       Impact factor: 4.438

3.  Transmission of incontinentia pigmenti from mother to son is consistent with a half chromatid back-mutation (reversion) model.

Authors:  U Langenbeck
Journal:  Clin Genet       Date:  1982-11       Impact factor: 4.438

4.  Two cases of X/autosome translocation in females with incontinentia pigmenti.

Authors:  S V Hodgson; B Neville; R W Jones; C Fear; M Bobrow
Journal:  Hum Genet       Date:  1985       Impact factor: 4.132

5.  X inactivation patterns in two syndromes with probable X-linked dominant, male lethal inheritance.

Authors:  P Wieacker; J Zimmer; H H Ropers
Journal:  Clin Genet       Date:  1985-09       Impact factor: 4.438

6.  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

7.  Incontinentia pigmenti. A world statistical analysis.

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

8.  Incontinentia pigmenti in Arizona Indians including transmission from mother to son inconsistent with the half chromatid mutation model.

Authors:  F Hecht; B K Hecht; W J Austin
Journal:  Clin Genet       Date:  1982-05       Impact factor: 4.438
  8 in total
  6 in total

Review 1.  Incontinentia pigmenti (Bloch-Sulzberger syndrome).

Authors:  S J Landy; D Donnai
Journal:  J Med Genet       Date:  1993-01       Impact factor: 6.318

2.  A Case of a Surviving Male Infant with Incontinentia Pigmenti.

Authors:  Ji Young Song; Chan Ho Na; Byoung Soo Chung; Kyu Cherl Choi; Bong Seok Shin
Journal:  Ann Dermatol       Date:  2008-09-30       Impact factor: 1.444

3.  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

4.  Gonadal mosaicism for incontinentia pigmenti in a healthy male.

Authors:  T T Kirchman; M L Levy; R A Lewis; M H Kanzler; D L Nelson; A E Scheuerle
Journal:  J Med Genet       Date:  1995-11       Impact factor: 6.318

5.  Clinical profile of comorbidity of rare diseases in a Tunisian patient: a case report associating incontinentia pigmenti and Noonan syndrome.

Authors:  Nehla Ghedira; Arnaud Lagarde; Karim Ben Ameur; Sahar Elouej; Rania Sakka; Emna Kerkeni; Fatma-Zohra Chioukh; Sylviane Olschwang; Jean-Pierre Desvignes; Sonia Abdelhak; Valerie Delague; Nicolas Lévy; Kamel Monastiri; Annachiara De Sandre-Giovannoli
Journal:  BMC Pediatr       Date:  2018-08-29       Impact factor: 2.125

Review 6.  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
  6 in total

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