Literature DB >> 6499266

Isochromosome 18q with karyotype 46,XX,i(18q). Cytogenetics and pathology.

U Froster-Iskenius, W Coerdt, H Rehder, E Schwinger.   

Abstract

Cytogenetic and morphological findings of a 20-gestational-week-old female fetus with karyotype 46,XX,i(18q) are reported. The fetus displayed clinical features resembling Edward's syndrome. No characteristic symptoms of monosomy 18p could be observed.

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Year:  1984        PMID: 6499266     DOI: 10.1111/j.1399-0004.1984.tb01102.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN: 0009-9163            Impact factor:   4.438


  6 in total

1.  Identification of complex chromosome 18 rearrangements by FISH and array CGH in two patients with apparent isochromosome 18q.

Authors:  Amy M Breman; Frank J Probst; Maria A Blazo; Christian P Schaaf; Erin K Roney; William J Craigen; Carlos A Bacino; Sau Wai Cheung
Journal:  Am J Med Genet A       Date:  2011-05-12       Impact factor: 2.802

2.  Prenatal detection of monosomy 18p and trisomy 18q mosaicism with unexpected fetal phenotype.

Authors:  S D Sutton; M A Ridler
Journal:  J Med Genet       Date:  1986-06       Impact factor: 6.318

3.  Morphology alone does not make an isochromosome.

Authors:  S M Schmutz; E Pinno
Journal:  Hum Genet       Date:  1986-03       Impact factor: 4.132

4.  Prophase pairing in a mosaic 18p-;iso 18q human female foetus studied by surface spreading.

Authors:  R M Speed
Journal:  Hum Genet       Date:  1986-03       Impact factor: 4.132

5.  Pseudodicentric chromosome 18 diagnosed by chromosome painting and primed in situ labelling (PRINS).

Authors:  C A Brandt; B Djernes; H Strømkjaer; M B Petersen; S Pedersen; J Hindkjaer; J Brinch-Iversen; G Bruun-Petersen
Journal:  J Med Genet       Date:  1994-02       Impact factor: 6.318

6.  Prenatal diagnosis of alobar holoprosencephaly, cyclopia, proboscis, and isochromosome 18q in the second trimester.

Authors:  Meike Bangma; Simone Lunshof; Diane Van Opstal; Robert J Galjaard; Dimitri N M Papatsonis
Journal:  AJP Rep       Date:  2011-06-08
  6 in total

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