A rare inherited euchromatic heteromorphism on chromosome 1 |
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| Authors: | Dr A L Zaslav D Blumenthal J E Fox K A Thomson R Segraves M E Weinstein |
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| Institution: | 1. Division of Human Genetics, Schneider Children's Hospital, Long Island Jewish Medical Center, The Long Island Campus for the Albert Einstein College of Medicine, New Hyde Park, NY 11042, U.S.A.;2. Integrated Genetics Laboratories, Inc., 3 Garret Mountain Plaza, West Paterson, NJ 07424, U.S.A.;3. Division of Molecular Cytometry, University of California San Francisco, 1855 Folsom Ave., San Francisco, CA 94143, U.S.A. |
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| Abstract: | Extra genetic material that is euchromatic is generally regarded to be associated with phenotypic abnormalities. However, recent studies suggest that this is not always the case. Chromosome analysis was performed on amniotic fluid cells from a 37-year-old phenotypi-cally normal patient referred for advanced maternal age. All the cells analysed showed a karyotype of 46, XY, 1p-K The 1p+ chromosome had extra genetic material of uncertain origin in chromosome band region 1p21 →31. Chromosome analysis on the father revealed a normal 46, XY male karyotype. The mother's karyotype showed the same 1p+ chromosome. C and Q banding, as well as silver staining studies, in both the mother and the fetus support the interpretation that the extra chromosomal material was euchromatic in nature. This 1p + chromosome may be characterized as a euchromatic heteromorphism. Euchromatic hetero-morphisms not associated with phenotypic abnormalities have been reported for chromosomes 9 and 16. To the best of our knowledge, this is the first report involving this type of cytogenetic anomaly on chromosome number 1 in a phenotypically normal mother and infant. |
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| Keywords: | Chromosome number 1 Euchromatic heteromorphism Prenatal diagnosis |
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