Literature DB >> 3723555

Trisomy 18 in a 13 year old girl.

L Mehta, R S Shannon, D P Duckett, I D Young.   

Abstract

A 13 year old girl with trisomy 18 is described. She showed profound mental and growth retardation, severe kyphoscoliosis, and unusual ocular features including discontinuous eyebrows, distichiasis, and blue sclerae.

Entities:  

Mesh：

Year:  1986        PMID： 3723555      PMCID： PMC1049638          DOI： 10.1136/jmg.23.3.256

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


  7 in total

1.  Exclusion of chromosomal mosaicism: tables of 90%, 95% and 99% confidence limits and comments on use.

Authors:  E B Hook
Journal:  Am J Hum Genet       Date:  1977-01       Impact factor: 11.025

2.  Intraocular pathology of trisomy 18 (Edwards's syndrome): report of a case and review of the literature.

Authors:  J P Calderone; J Chess; G Borodic; D M Albert
Journal:  Br J Ophthalmol       Date:  1983-03       Impact factor: 4.638

3.  [Do all cases of trisomy 18 with long survival (beyond 10 years) show mosaicism in fibroblasts? (author's transl)].

Authors:  L Crippa; J P Marcoz; D Klein; D Bourquin
Journal:  J Genet Hum       Date:  1978-06

4.  Who will survive with trisomy 13 or 18? A call for cases 10 years old or above.

Authors:  F Hecht
Journal:  Am J Med Genet       Date:  1981

5.  Trisomy 18 mosaicism: clues to the diagnosis.

Authors:  H N Bass; M Fox; E Wulfsberg; R S Sparkes; B F Crandall
Journal:  Clin Genet       Date:  1982-12       Impact factor: 4.438

6.  Survival in trisomy 18. Life tables for use in genetic counselling and clinical paediatrics.

Authors:  P E Carter; J H Pearn; J Bell; N Martin; N G Anderson
Journal:  Clin Genet       Date:  1985-01       Impact factor: 4.438

7.  Trisomy 18 in an 11 year old girl.

Authors:  A Smith; M Silink; T Ruxton
Journal:  J Ment Defic Res       Date:  1978-12
  7 in total
  5 in total

1.  A 20-year-old male with partial trisomy 18q- as diagnosed by in situ hybridization.

Authors:  C H Gravholt; U Friedrich; J Nielsen
Journal:  Hum Genet       Date:  1992-03       Impact factor: 4.132

2.  Parental origin of the extra chromosome in trisomy 18.

Authors:  K G Kupke; U Müller
Journal:  Am J Hum Genet       Date:  1989-10       Impact factor: 11.025

3.  Changing demography of trisomy 18.

Authors:  I D Young; J P Cook; L Mehta
Journal:  Arch Dis Child       Date:  1986-10       Impact factor: 3.791

4.  Distichiasis: management with cryotherapy to the posterior lamella.

Authors:  B A O'Donnell; J R Collin
Journal:  Br J Ophthalmol       Date:  1993-05       Impact factor: 4.638

5.  Ocular manifestations in Edward's syndrome, a case report and literature review.

Authors:  Arash Mirmohammadsadeghi; Mohammad Reza Akbari; Afsaneh Malekpoor
Journal:  J Curr Ophthalmol       Date:  2017-07-15
  5 in total

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