Literature DB >> 3540928

Recently recognized chromosomal defects of clinical importance.

M Pembrey, M Baraitser.   

Abstract

We review those conditions which have recently been recognized to be associated with small, sometimes difficult to detect, chromosomal abnormalities. These include the Prader-Willi syndrome and X-linked mental retardation.

Entities:  

Mesh：

Year:  1986        PMID： 3540928      PMCID： PMC2418606          DOI： 10.1136/pgmj.62.724.131

Source DB:  PubMed          Journal:  Postgrad Med J        ISSN： 0032-5473            Impact factor:   2.401


  62 in total

1.  Fragile sites on human chromosomes: demonstration of their dependence on the type of tissue culture medium.

Authors:  G R Sutherland
Journal:  Science       Date:  1977-07-15       Impact factor: 47.728

2.  The fragile X syndrome I: familial variation in the proportion of lymphocytes with the fragile site in males.

Authors:  D Soudek; M W Partington; J S Lawson
Journal:  Am J Med Genet       Date:  1984-01

3.  Deleted X chromosomes in patients with the fragile X syndrome.

Authors:  M Fitchett; M Seabright
Journal:  J Med Genet       Date:  1984-10       Impact factor: 6.318

4.  High resolution banding and the locus of the Xq fragile site.

Authors:  R Brookwell; G Turner
Journal:  Hum Genet       Date:  1983       Impact factor: 4.132

5.  Familial cytomegalic adrenocortical hypoplasia: an X-linked syndrome of pubertal failure.

Authors:  I D Hay; P J Smail; C C Forsyth
Journal:  Arch Dis Child       Date:  1981-09       Impact factor: 3.791

6.  An anthropometric study of males with the fragile-X syndrome.

Authors:  D L Meryash; C E Cronk; B Sachs; P S Gerald
Journal:  Am J Med Genet       Date:  1984-01

7.  Heritable fragile sites on human chromosomes. VIII. Preliminary population cytogenetic data on the folic-acid-sensitive fragile sites.

Authors:  G R Sutherland
Journal:  Am J Hum Genet       Date:  1982-05       Impact factor: 11.025

8.  Glycerol kinase deficiency with neuromuscular, skeletal, and adrenal abnormalities.

Authors:  M A Guggenheim; E R McCabe; M Roig; S I Goodman; G M Lum; W W Bullen; S P Ringel
Journal:  Ann Neurol       Date:  1980-05       Impact factor: 10.422

9.  Congenital adrenal hypoplasia, progressive muscular dystrophy, and severe mental retardation, in association with glycerol kinase deficiency, in male sibs.

Authors:  W O Renier; F A Nabben; T W Hustinx; J H Veerkamp; B J Otten; H J Ter Laak; B G Ter Haar; F J Gabreëls
Journal:  Clin Genet       Date:  1983-10       Impact factor: 4.438

10.  Syndromes with lissencephaly. I: Miller-Dieker and Norman-Roberts syndromes and isolated lissencephaly.

Authors:  W B Dobyns; R F Stratton; F Greenberg
Journal:  Am J Med Genet       Date:  1984-07
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