Literature DB >> 5046635

A case of double aneuploidy, 47,XXY,14-,t(13q14q)+, also probably homozygous for the cystic fibrosis gene.

R H Lindenbaum, N L Blackwell, D J De Sa'.   

Abstract

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Year:  1972        PMID： 5046635      PMCID： PMC1469038          DOI： 10.1136/jmg.9.2.232

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


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  18 in total

1.  Cystic fibrosis and Down's syndrome.

Authors:  A Milunsky
Journal:  Pediatrics       Date:  1968-09       Impact factor: 7.124

2.  [Concurrent mongolism and cystic pancreatic fibrosis].

Authors:  M Vetrella; W Barthelmai; H Matsuda
Journal:  Klin Wochenschr       Date:  1969-03-15

3.  Double aneuploidy: the frequency of XXY in males with Down's syndrome.

Authors:  F Hecht; J E Nievaard; N Duncanson; J R Miller; J V Higgins; W J Kimberling; F A Walker; G S Smith; H C Thuline; B Tischler
Journal:  Am J Hum Genet       Date:  1969-07       Impact factor: 11.025

4.  Abnormal siblings in patients with trisomy 13-15 and 17-18.

Authors:  J B Campbell
Journal:  Mil Med       Date:  1969-07       Impact factor: 1.437

5.  Inhibition of the motility of gill cilia of Dreissensia by plasma of cystic fibrosis patients and their parents.

Authors:  G T Besley; A D Patrick; A P Norman
Journal:  J Med Genet       Date:  1969-09       Impact factor: 6.318

6.  Autosomal trisomy syndromes: a detailed study of 27 cases of Edwards' syndrome and 27 cases of Patau's syndrome.

Authors:  A I Taylor
Journal:  J Med Genet       Date:  1968-09       Impact factor: 6.318

7.  [Comparative pathology of trisomies D and E].

Authors:  L Bocquet
Journal:  Union Med Can       Date:  1968-07

8.  Incidence of fibrocystic disease in Wessex.

Authors:  B D Hall; M J Simpkiss
Journal:  J Med Genet       Date:  1968-12       Impact factor: 6.318

Review 9.  Congenital malformations in autosomal trisomy syndromes.

Authors:  J Warkany; E Passarge; L B Smith
Journal:  Am J Dis Child       Date:  1966-12

10.  A sex chromatin survey of newborn children in two London hospitals.

Authors:  A I Taylor; E C Moores
Journal:  J Med Genet       Date:  1967-12       Impact factor: 6.318
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  1 in total

1.  A pericentric inversion of a chromosome 4 with a t(4q+10p-) and a familial t(DqDq) in a mentally retarded girl.

Authors:  S W Soukup; W Yarema; M Robinow
Journal:  Humangenetik       Date:  1974
  1 in total

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