Literature DB >> 6882720

Corneal opacities--a diagnostic feature of the trisomy 8 mosaic syndrome.

M Frangoulis, D Taylor.   

Abstract

An infant with trisomy 8 mosaicism had bilateral corneal opacities and multiple systemic anomalies. A review of the literature suggests that corneal opacities are a prominent feature of the syndrome and may have substantial clinical and diagnostic importance.

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Year:  1983        PMID： 6882720      PMCID： PMC1040142          DOI： 10.1136/bjo.67.9.619

Source DB:  PubMed          Journal:  Br J Ophthalmol        ISSN： 0007-1161            Impact factor:   4.638


  18 in total

1.  A case of trisomy 8 mosaicism 47, xx + 8/46, xx.

Authors:  V Aller; J A Abrisqueta; A Perez; M A Martin; C Goday; J D Mazo
Journal:  Clin Genet       Date:  1975-03       Impact factor: 4.438

2.  Trisomy 8 syndrome.

Authors:  S B Cassidy; B J McGee; J van Eys; W E Nance; E Engel
Journal:  Pediatrics       Date:  1975-11       Impact factor: 7.124

3.  Cell selection in vivo in normal-G trisomic mosaics.

Authors:  A I Taylor
Journal:  Nature       Date:  1968-09-07       Impact factor: 49.962

4.  The tirsomy 8 syndrome: two additional mosaic cases.

Authors:  B F Crandall; H N Bass; S M Marcy; M Glovsky; C H Fish
Journal:  J Med Genet       Date:  1974-12       Impact factor: 6.318

5.  [Mosaicism--Trisomy 8].

Authors:  L Rützler; J Briner; F Saur; W Schmid
Journal:  Helv Paediatr Acta       Date:  1974-12

6.  [Severe child language integration disorders and chromosome aberrations, apropos of 3 cases].

Authors:  P Debray-ritzen; C Bursztejn; R Vivier; M O Rethoré; M Prieur; J Lejeune
Journal:  Rev Neurol (Paris)       Date:  1974 Sep-Oct       Impact factor: 2.607

7.  Further observations of cell selection in vivo in normal-G trisomic mosaics.

Authors:  A I Taylor
Journal:  Nature       Date:  1970-07-11       Impact factor: 49.962

8.  Two cases of trisomy C6-12 mosaicism with multiple congenital malformations.

Authors:  M Higurashi; M Naganuma; I Matsui; S Kamoshita
Journal:  J Med Genet       Date:  1969-12       Impact factor: 6.318

9.  Absent patellae, mild mental retardation, skeletal and genitourinary anomalies, and C group autosomal mosaicism.

Authors:  V M Riccardi; L Atkins; L B Holmes
Journal:  J Pediatr       Date:  1970-10       Impact factor: 4.406

10.  Trisomy 8 mosaicism syndrome.

Authors:  R M Fineman; R C Ablow; R O Howard; J Albright; W R Breg
Journal:  Pediatrics       Date:  1975-11       Impact factor: 7.124
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  6 in total

1.  A case of Hirschsprung disease with a chromosome 13 microdeletion, del(13)(q32.3q33.2): potential mapping of one disease locus.

Authors:  A Bottani; Y G Xie; F Binkert; A Schinzel
Journal:  Hum Genet       Date:  1991-10       Impact factor: 4.132

2.  A corneal abnormality associated with trisomy 8 mosaicism syndrome.

Authors:  D J Stark; D W Gilmore; J C Vance; J H Pearn
Journal:  Br J Ophthalmol       Date:  1987-01       Impact factor: 4.638

Review 3.  Gene-rich chromosome regions and autosomal trisomy. A case of chromosome 3 trisomy mosaicism.

Authors:  E M Kuhn; G E Sarto; B J Bates; E Therman
Journal:  Hum Genet       Date:  1987-11       Impact factor: 4.132

4.  Atypical chronic myelogenous leukemia in a patient with trisomy 8 mosaicism syndrome.

Authors:  P Kapaun; H Kabisch; K R Held; T A Walter; S Hegewisch; A R Zander
Journal:  Ann Hematol       Date:  1993-01       Impact factor: 3.673

Review 5.  Chromosome abnormalities and the genetics of congenital corneal opacification.

Authors:  A Mataftsi; L Islam; D Kelberman; J C Sowden; K K Nischal
Journal:  Mol Vis       Date:  2011-06-17       Impact factor: 2.367

Review 6.  Systemic and ocular manifestations of a patient with mosaic ARID1A-associated Coffin-Siris syndrome and review of select mosaic conditions with ophthalmic manifestations.

Authors:  Virginia Miraldi Utz; Diana S Brightman; Monica A Sandoval; Robert B Hufnagel; Howard M Saal
Journal:  Am J Med Genet C Semin Med Genet       Date:  2020-09-05       Impact factor: 3.359
  6 in total

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