Literature DB >> 402271

Eye findings in the 13 trisomy syndrome.

J C Allen, G Venecia, J M Opitz.   

Abstract

The gross and microscopic eye findings in the first historic case of the 13-trisomy syndrome included: severe microphthalmia, coloboma of the ciliary body, cataracts, detached retina, and retinal dysplasia.

Entities:  

Mesh:

Year:  1977        PMID: 402271     DOI: 10.1007/bf00452109

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN: 0340-6199            Impact factor:   3.183


  10 in total

1.  ANATOMIC AND HISTOPATHOLOGIC STUDY OF TWO CASES OF D1 (13-15) TRISOMY.

Authors:  M MARIN-PADILLA; D HOEFNAGEL; K BENIRSCHKE
Journal:  Cytogenetics       Date:  1964

2.  AUTOSOMAL TRISOMY SYNDROMES, EXCLUDING DOWN'S.

Authors:  A I TAYLOR; P E POLANI
Journal:  Guys Hosp Rep       Date:  1964

3.  THE ANOMALOUS EMBRYONIC DEVELOPMENT ASSOCIATED WITH TRISOMY 13-15.

Authors:  N K MOTTET; H JENSEN
Journal:  Am J Clin Pathol       Date:  1965-04       Impact factor: 2.493

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.  Multiple developmental anomalies and trisomy of a 13-15 group chromosome ('D' syndrome).

Authors:  P E CONEN; K G PHILLIPS; L S MAUNTNER
Journal:  Can Med Assoc J       Date:  1962-09-29       Impact factor: 8.262

6.  Multiple congenital abnormalities associated with chromosomal trisomy.

Authors:  L ATKINS; M K ROSENTHAL
Journal:  N Engl J Med       Date:  1961-08-17       Impact factor: 91.245

7.  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

Review 8.  Autosomal imbalance and its syndromes, excluding down's.

Authors:  P E Polani
Journal:  Br Med Bull       Date:  1969-01       Impact factor: 4.291

Review 9.  Patau's, Edwards' and Cri du Chat syndromes: a tabulated summary of current findings.

Authors:  A I Taylor
Journal:  Dev Med Child Neurol       Date:  1967-02       Impact factor: 5.449

10.  The "D" (13-15) trisomy syndrome: an analysis of 7 examples.

Authors:  G J Snodgrass; L J Butler; N E France; L Crome; A Russell
Journal:  Arch Dis Child       Date:  1966-06       Impact factor: 3.791

  10 in total
  4 in total

1.  [Analysis of an ophthalmic pathology cohort of human fetal eyes with regard to interesting findings].

Authors:  M C Herwig; A M Müller; F G Holz; K U Loeffler
Journal:  Ophthalmologe       Date:  2010-11       Impact factor: 1.059

2.  [Increasing ocular opacity in trisomy 13].

Authors:  A M Palmowski-Wolfe; J Messerli; P Miny; P Weber
Journal:  Ophthalmologe       Date:  2005-10       Impact factor: 1.059

Review 3.  [Importance of investigation of fetal eyes : Supplement to fetal autopsy].

Authors:  M C Herwig-Carl; K U Loeffler; A M Müller
Journal:  Pathologe       Date:  2017-07       Impact factor: 1.011

4.  Contribution of magnetic resonance imaging to the knowledge of CNS malformations related to chromosomal aberrations.

Authors:  J C Tamraz; M O Rethoré; M T Iba-Zizen; J Lejeune; E A Cabanis
Journal:  Hum Genet       Date:  1987-07       Impact factor: 4.132

  4 in total

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