Literature DB >> 469890

Extra small metacentric chromosome identified as i(18p).

M Rocchi, M Stormi, N Archidiacono, G Filippi.   

Abstract

A case of a supernumerary metacentric small chromosome, diagnosed at birth, is described. The cytogenetic findings support its identification as i(18p). The clinical development from birth to 12 months is reported, with particular attention given to the psychomotor retardation and to the immunological aspect.

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Year:  1979        PMID： 469890      PMCID： PMC1012785          DOI： 10.1136/jmg.16.1.69

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


  11 in total

1.  [Identification by Q and G bands of chromosome anomalies in spontaneous abortion].

Authors:  J Boué; M J Daketsé; C Deluchat; N Ravisé; F Yvert; A Boué
Journal:  Ann Genet       Date:  1976-12

2.  An extra small metacentric chromosome identified as a deleted chromosome no. 17.

Authors:  W Palutke; H Chen; P Woolley; C Espiritu; H L Vogel; N Gohle; M Tyrkus
Journal:  Clin Genet       Date:  1976-05       Impact factor: 4.438

3.  Inversion 19 and isochromosome short arm 17 or 18.

Authors:  J Nielsen; A Homma; V Holm
Journal:  Hum Genet       Date:  1977-07-26       Impact factor: 4.132

4.  Staining of some specific regions of human chromosomes, particularly the secondary constriction of No. 9.

Authors:  M Bobrow; K Madan; P L Pearson
Journal:  Nat New Biol       Date:  1972-07-26

5.  Father and daughter with presumptive isochromosome satellites-short arms D or G.

Authors:  J Nielsen; A B Hreidarsson
Journal:  Humangenetik       Date:  1973-09-20

6.  Secondary constrictions and nucleolus organizer regions in man.

Authors:  M Ferraro; N Archidiacono; F Pelliccia; M Rocchi; A Rocchi; A de Capoa
Journal:  Exp Cell Res       Date:  1977-02       Impact factor: 3.905

7.  An improved technique for selective silver staining of nucleolar organizer regions in human chromosomes.

Authors:  S E Bloom; C Goodpasture
Journal:  Hum Genet       Date:  1976-10-28       Impact factor: 4.132

8.  Modification of DAPI banding on human chromosomes by prestaining with a DNA-binding oligopeptide antibiotic, distamycin A.

Authors:  D Schweizer; P Ambros; M Andrle
Journal:  Exp Cell Res       Date:  1978-02       Impact factor: 3.905

9.  The supernumerary isochromosome 18 syndrome (+ 18pu).

Authors:  C J Condron; R J Cantwell; R L Kaufman; S B Brown; R J Warren
Journal:  Birth Defects Orig Artic Ser       Date:  1974

10.  A case report of a presumptive +i(18p) associated with serum IgA deficiency.

Authors:  K Ogata; K Iinuma; K Kammura; R Morinaga; J Kato
Journal:  Clin Genet       Date:  1977-03       Impact factor: 4.438
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  5 in total

1.  Monosomy 18p and pure trisomy 18p in a family with translocation (7;18).

Authors:  M Habedank; G Trost-Brinkhues
Journal:  J Med Genet       Date:  1983-10       Impact factor: 6.318

2.  The genetic significance of accessory bisatellited marker chromosomes.

Authors:  P Steinbach; M Djalali; I Hansmann; E Kattner; M Meisel-Stosiek; H D Probeck; A Schmidt; M Wolf
Journal:  Hum Genet       Date:  1983       Impact factor: 4.132

3.  Tetrasomy 18p: tentative delineation of a syndrome.

Authors:  D A Batista; A M Vianna-Morgante; A Richieri-Costa
Journal:  J Med Genet       Date:  1983-04       Impact factor: 6.318

4.  Efficient identification of marker chromosomes in 27 patients by stepwise hybridization with alpha-satellite DNA probes.

Authors:  R Plattner; N A Heerema; Y B Yurov; C G Palmer
Journal:  Hum Genet       Date:  1993-03       Impact factor: 4.132

5.  Tetrasomy 18p: case report and review of literature.

Authors:  Shahad Bawazeer; Maha Alshalan; Aziza Alkhaldi; Nasser AlAtwi; Mohammed AlBalwi; Abdulrahman Alswaid; Majid Alfadhel
Journal:  Appl Clin Genet       Date:  2018-02-08
  5 in total

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