Literature DB >> 8411076

Hypomelanosis of Ito associated with mosaicism for trisomy 7 and apparent 'pseudomosaicism' at amniocentesis.

D Jenkins1, K Martin, I D Young.   

Abstract

We describe a patient with hypomelanosis of Ito (HI) and typical characteristics. Cytogenetic analysis of fibroblast cultures showed mosaicism for trisomy 7. The trisomy cell line was first observed in an amniotic fluid culture and illustrates the problem of distinguishing pseudomosaicism from true mosaicism.

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Year:  1993        PMID： 8411076      PMCID： PMC1016538          DOI： 10.1136/jmg.30.9.783

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


  5 in total

1.  United States survey on chromosome mosaicism and pseudomosaicism in prenatal diagnosis.

Authors:  L Y Hsu; T E Perlis
Journal:  Prenat Diagn       Date:  1984       Impact factor: 3.050

Review 2.  Lyonization and the lines of Blaschko.

Authors:  R Happle
Journal:  Hum Genet       Date:  1985       Impact factor: 4.132

3.  Hypomelanosis of Ito: a manifestation of mosaicism or chimerism.

Authors:  D Donnai; A P Read; C McKeown; T Andrews
Journal:  J Med Genet       Date:  1988-12       Impact factor: 6.318

4.  Hypomelanosis of Ito (incontinentia pigmenti achromians) and mosaicism for a microdeletion of 15q1.

Authors:  C Turleau; F Taillard; M Doussau de Bazignan; N Delépine; J C Desbois; J de Grouchy
Journal:  Hum Genet       Date:  1986-10       Impact factor: 4.132

5.  Hypomelanosis of Ito (incontinentia pigmenti achromians)--a clinicopathologic study: macrocephaly and gray matter heterotopias.

Authors:  D L Ross; B H Liwnicz; R W Chun; E Gilbert
Journal:  Neurology       Date:  1982-09       Impact factor: 9.910
  5 in total
  3 in total

1.  Transferrin protein variant mimicking carbohydrate-deficient glycoprotein syndrome in trisomy 7 mosaicism.

Authors:  C Knopf; R Rod; J Jaeken; M Berant; E Van Schaftingen; J P Fryns; R Brill-Zamir; R Gershoni-Baruch; S Lischinsky; H Mandel
Journal:  J Inherit Metab Dis       Date:  2000-06       Impact factor: 4.982

2.  Asymmetry and skin pigmentary anomalies in chromosome mosaicism.

Authors:  C G Woods; A Bankier; J Curry; L J Sheffield; S F Slaney; K Smith; L Voullaire; D Wellesley
Journal:  J Med Genet       Date:  1994-09       Impact factor: 6.318

Review 3.  Pigmentary mosaicism: a review of original literature and recommendations for future handling.

Authors:  Anna Boye Kromann; Lilian Bomme Ousager; Inas Kamal Mohammad Ali; Nurcan Aydemir; Anette Bygum
Journal:  Orphanet J Rare Dis       Date:  2018-03-05       Impact factor: 4.123
  3 in total

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