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Two cases of tetrasomy 9p syndrome with tissue limited mosaicism
Author(s) -
Lloveras Elisabet,
Pérez C.,
Solé F.,
Zamora L.,
Lladonosa A.,
Espinet B.,
Silvestre E.,
Serra J.,
Vendrell T.,
Fernández B.,
Salido M.,
Plaja A.
Publication year - 2003
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.20447
Subject(s) - tetrasomy , isochromosome , biology , cytogenetics , prenatal diagnosis , karyotype , genetics , aneuploidy , chromosome , trisomy , fluorescence in situ hybridization , pathology , fetus , medicine , pregnancy , gene
Tetrasomy of short arm of chromosome 9 constitutes a clinically recognizable chromosomal syndrome. Isochromosome 9p shows a strong propensity to tissue‐limited mosaicism. It occurs predominantly in peripheral blood cultures, often at a lower frequency or even absent in skin, amniotic fluid or chorionic villous cell cultures. Tissue‐limited nature of mosaicism may render prenatal detection of this condition very difficult. Herein, we report two new cases of mosaic tetrasomy 9p. Conventional cytogenetics (CC) and FISH studies demonstrated a differential expression of the mosaicism in several tissues. We review the literature and discuss the implications of these findings in cytogenetic prenatal diagnosis. © 2003 Wiley‐Liss, Inc.