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Prenatal diagnosis of mosaic tetrasomy 5p
Author(s) -
Park Jonathan P.,
Barefoot Katharine H.,
Ornvold Kim,
Berg Susan Z.,
Dossu Josiane R.,
Mohandas T. K.
Publication year - 2001
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.66
Subject(s) - tetrasomy , isochromosome , prenatal diagnosis , supernumerary , fetus , polyhydramnios , aneuploidy , amniocentesis , medicine , pathology , palpebral fissure , karyotype , anatomy , pregnancy , biology , chromosome , genetics , gene
We report the prenatal diagnosis of a fetus with tetrasomy 5p mosaicism resulting from a supernumerary isochromosome for the short arm of chromosome 5. The pregnancy was terminated and fetal autopsy revealed minor facial abnormalities (long philtrum, up‐slanting palpebral fissures and a broad nasal bridge). Cultures were established from fetal skin, kidney, and pancreas for cytogenetic analysis; the i(5p) was observed only in the skin fibroblasts. To our knowledge, this is the fourth report of mosaic tetrasomy 5p and the first report of prenatal diagnosis of this abnormality. Copyright © 2001 John Wiley & Sons, Ltd.