Literature DB >> 6467667

Mosaic tetrasomy 21 in a male child.

M L Kwee, P G Barth, F Arwert, K Madan.   

Abstract

We report a three-year-old male child with dysmorphy, severe mental retardation and a mosaic tetrasomy 21 caused by an extra F-like chromosome composed of two long arms of chromosome 21. We have compared this unusual case with two other similar published case reports. Hypotheses to account for the origin of the abnormal chromosome and the mosaicism are presented and discussed.

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Year:  1984        PMID： 6467667     DOI： 10.1111/j.1399-0004.1984.tb00805.x

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


  3 in total

1.  Tetrasomy 12p (Pallister-Killian syndrome).

Authors:  A Schinzel
Journal:  J Med Genet       Date:  1991-02       Impact factor: 6.318

2.  Molecular cytogenetic study of patients with Pallister-Killian syndrome.

Authors:  M Larramendy; M Heiskanen; M Wessman; A Ritvanen; P Peltomäki; K Simola; H Kääriäinen; H von Koskull; M Kähkönen; S Knuutila
Journal:  Hum Genet       Date:  1993-03       Impact factor: 4.132

3.  Molecular analysis of the isochromosome 12P in the Pallister-Killian syndrome. Construction of a mouse-human hybrid cell line containing an i(12p) as the sole human chromosome.

Authors:  J Zhang; P Marynen; K Devriendt; J P Fryns; H Van den Berghe; J J Cassiman
Journal:  Hum Genet       Date:  1989-11       Impact factor: 4.132
  3 in total

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