Literature DB >> 1219126

Bloom's syndrome: a probable new case with cytogenetic findings.

C A Bourgeois, M H Calverley, L Forman, P E Polani.   

Abstract

A 19-year-old Jordanian girl, born to first-cousin parents, has most features of Bloom's syndrome but is tall and has secondary amenorrhoea. Blood and skin cultures revealed a normal diploid female complement but about one-quarter of the cells show chromosome or chromatid gaps, breaks and rearrangements. These abnormalities were localized after trypsin banding and having been found non-randomly distributed along the chromosomes.

Entities:  

Mesh:

Year:  1975        PMID: 1219126      PMCID: PMC1013327          DOI: 10.1136/jmg.12.4.423

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


  7 in total

1.  Congenital telangiectatic erythema resembling lupus erythematosus in dwarfs; probably a syndrome entity.

Authors:  D BLOOM
Journal:  AMA Am J Dis Child       Date:  1954-12

2.  Nonrandom distribution of chromosome breaks in Fanconi's anemia.

Authors:  H Von Koskull; P Aula
Journal:  Cytogenet Cell Genet       Date:  1973

3.  Bloom's syndrome.

Authors:  J L Rauh; S W Soukup
Journal:  Am J Dis Child       Date:  1968-10

4.  High resolution studies on the pattern of induced exchanges in the human karyotype.

Authors:  M Seabright
Journal:  Chromosoma       Date:  1973       Impact factor: 4.316

5.  Human head circumference from birth to early adulthood: racial, regional, and sex comparisons.

Authors:  H V Meredith
Journal:  Growth       Date:  1971-09

6.  Bloom's syndrome. I. Genetical and clinical observations in the first twenty-seven patients.

Authors:  J German
Journal:  Am J Hum Genet       Date:  1969-03       Impact factor: 11.025

7.  Bloom's syndrome. The syndrome of telangiectatic erythema and growth retardation.

Authors:  J W Landau; M S Sasaki; V D Newcomer; A Norman
Journal:  Arch Dermatol       Date:  1966-12
  7 in total
  1 in total

Review 1.  The nuclear skeleton and the spatial arrangement of chromosomes in the interphase nucleus of vertebrate somatic cells.

Authors:  J Hubert; C A Bourgeois
Journal:  Hum Genet       Date:  1986-09       Impact factor: 4.132

  1 in total

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