Literature DB >> 7856666

18q- and 18q+ mosaicism in a mentally retarded boy.

M G Ausems1, S L Bhola, C A Post-Blok, R C Hennekam, H F de France.   

Abstract

A mentally retarded boy was found to have an unusual chromosomal mosaicism [46,XY, del(18) (q22)/46,XY,iso psu dic(18)(q23)]. The clinical manifestations are compatible with the 18q- syndrome. The chromosome alteration was defined by high resolution banding and fluorescence in situ hybridization (FISH). A mechanism to explain the origin of the two cell lines is presented and discussed.

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Year:  1994        PMID： 7856666     DOI： 10.1002/ajmg.1320530317

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


  2 in total

1.  Molecular characterisation of a mosaicism with a complex chromosome rearrangement: evidence for coincident chromosome healing by telomere capture and neo-telomere formation.

Authors:  Elyes Chabchoub; Laura Rodríguez; Enrique Galán; Elena Mansilla; Maria Luisa Martínez-Fernandez; Maria Luisa Martínez-Frías; Jean-Pierre Fryns; Joris Robert Vermeesch
Journal:  J Med Genet       Date:  2006-12-15       Impact factor: 6.318

2.  Complex chromosome rearrangement in a child with microcephaly, dysmorphic facial features and mosaicism for a terminal deletion del(18)(q21.32-qter) investigated by FISH and array-CGH: Case report.

Authors:  Emmanouil Manolakos; Nadezda Kosyakova; Loreta Thomaidis; Rozita Neroutsou; Anja Weise; Markos Mihalatos; Sandro Orru; Haris Kokotas; George Kitsos; Thomas Liehr; Michael B Petersen
Journal:  Mol Cytogenet       Date:  2008-11-11       Impact factor: 2.009
  2 in total

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