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Eur J Med Genet. 2008 Nov-Dec;51(6):622-30. doi: 10.1016/j.ejmg.2008.06.009. Epub 2008 Jul 12.

Monosomy 19pter and trisomy 19q13-qter in two siblings arising from a maternal pericentric inversion: clinical data and molecular characterization.

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  • 1Hospices Civils de Lyon, Service de Cytogénétique Constitutionnelle, Centre de Biologie et de Pathologie Est, Bron Cedex, France.

Abstract

Pericentric inversions of chromosome 19 are very rare rearrangements. Only one case was shown to have resulted in duplication deficiency in the offspring. We report a familial case of pericentric inversion of chromosome 19 not detectable by standard karyotype and usual subtelomeric FISH probes. This inversion was transmitted in its balanced and in its recombinant form to the offspring. The two children carrying the recombinant chromosome 19 presented with growth and mental retardation, microcephaly, mild facial dysmorphism and clinodactyly. The recombinant chromosome 19 was characterized by FISH and array CGH. It consisted of a 400kb 19pter deletion and a 6.9Mb (19q13.33-qter) duplication. This observation supports the recombination risk of pericentric inversion of chromosome 19 and emphasizes the role of molecular cytogenetics techniques in the characterization of chromosome 19 rearrangements.

PMID:
18674648
DOI:
10.1016/j.ejmg.2008.06.009
[PubMed - indexed for MEDLINE]
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