Literature DB >> 760775

Rieger's syndrome with pericentric inversion of chromosome 6.

M H Heinemann, R Breg, E Cotlier.   

Abstract

Pericentric inversion of chromosome 6 (6p+q-) was found in a girl with Rieger's syndrome and in her father. The only ocular signs in the father were prominent iris mounds and Schwalbe's line. The association of chromosomal anomalies with Rieger's syndrome indicates the need for a chromosome banding test in familial or sporadic patients with the syndrome and in patients with mild anomalies of the anterior chamber angle.

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Year:  1979        PMID: 760775      PMCID: PMC1043384          DOI: 10.1136/bjo.63.1.40

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


  22 in total

1.  MATERNAL TRANSMISSION OF A NEW GROUP-C(6/9) CHROMOSOMAL SYNDROME.

Authors:  R A ROHDE; B CATZ
Journal:  Lancet       Date:  1964-10-17       Impact factor: 79.321

Review 2.  CHROMOSOME 18: A TOPOLOGIC APPROACH.

Authors:  J DE GROUCHY
Journal:  J Pediatr       Date:  1965-02       Impact factor: 4.406

3.  CHROMOSOME STUDIES IN FIVE CASES OF COLOBOMA OF THE IRIS.

Authors:  K P LELE; T DENT; J D DELHANTY
Journal:  Lancet       Date:  1965-03-13       Impact factor: 79.321

4.  The D-I trisomy syndrome.

Authors:  D W SMITH; K PATAU; E THERMAN; S L INHORN; R I DEMARS
Journal:  J Pediatr       Date:  1963-03       Impact factor: 4.406

5.  A new trisomic syndrome.

Authors:  J H EDWARDS; D G HARNDEN; A H CAMERON; V M CROSSE; O H WOLFF
Journal:  Lancet       Date:  1960-04-09       Impact factor: 79.321

6.  Multiple congenital anomaly caused by an extra autosome.

Authors:  K PATAU; D W SMITH; E THERMAN; S L INHORN; H P WAGNER
Journal:  Lancet       Date:  1960-04-09       Impact factor: 79.321

7.  External visibility of the region of Schlemm's canal; report on a family with developmental anomalies of cornea, iris, and chamber angle.

Authors:  H M BURIAN; M H RICE; L ALLEN
Journal:  AMA Arch Ophthalmol       Date:  1957-05

8.  The eyes in mongolism.

Authors:  R F LOWE
Journal:  Br J Ophthalmol       Date:  1949-03       Impact factor: 4.638

9.  The eye in the partial trisomy 2q syndrome.

Authors:  E Cotlier; H Reinglass; I Rosenthal
Journal:  Am J Ophthalmol       Date:  1977-08       Impact factor: 5.258

10.  Ocular manifestations of trisomy 18.

Authors:  J Ginsberg; E V Perrin; W T Sueoka
Journal:  Am J Ophthalmol       Date:  1968-07       Impact factor: 5.258

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  8 in total

1.  A second locus for Rieger syndrome maps to chromosome 13q14.

Authors:  J C Phillips; E A del Bono; J L Haines; A M Pralea; J S Cohen; L J Greff; J L Wiggs
Journal:  Am J Hum Genet       Date:  1996-09       Impact factor: 11.025

Review 2.  Toward the complete genomic map and molecular pathology of human chromosome 4.

Authors:  O Riess; B Winkelmann; J T Epplen
Journal:  Hum Genet       Date:  1994-07       Impact factor: 4.132

3.  A case of partial monosomy 21q22.2 associated with Rieger's syndrome.

Authors:  F Nielsen; L Trånebjaerg
Journal:  J Med Genet       Date:  1984-06       Impact factor: 6.318

Review 4.  Pericentric inversions. Problems and significance for clinical genetics.

Authors:  P Kaiser
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132

5.  Autosomal dominant iridogoniodysgenesis with associated somatic anomalies: four-generation family with Rieger's syndrome.

Authors:  I A Chisholm; A E Chudley
Journal:  Br J Ophthalmol       Date:  1983-08       Impact factor: 4.638

6.  Heterogeneity in dominant anterior segment malformations.

Authors:  G E Holmström; W P Reardon; M Baraitser; J S Elston; D S Taylor
Journal:  Br J Ophthalmol       Date:  1991-10       Impact factor: 4.638

Review 7.  Genetics of microphthalmos.

Authors:  M Warburg
Journal:  Int Ophthalmol       Date:  1981-08       Impact factor: 2.031

Review 8.  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

  8 in total

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