Prenatal diagnosis of a homologous Robertsonian translocation involving chromosome 15 |
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| Authors: | Debra J Abrams Amy R Aronoff Sue Ann Berend Benjamin B Roa Lisa G Shaffer Mark R Geier |
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| Institution: | 1. Molecular Medicine, Inc., a subsidiary of The Genetic Centers of America, Rockville, MD, USA;2. Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA;3. The Genetic Center, a subsidiary of The Genetic Centers of America, Owings Mills, MD, USA |
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| Abstract: | We report the prenatal diagnosis of a fetus with a de novo Robertsonian translocation: 45,XY,der(15;15)(q10;q10). Although Robertsonian translocations are common chromosomal rearrangements, those involving homologous chromosomes are infrequent. Since chromosome 15 is imprinted, uniparental disomy (UPD) is a concern when chromosomal rearrangements involving chromosome 15 are identified. In the present case, UPD studies showed normal biparental inheritance. In contrast to the fact that most homologous acrocentric rearrangements are isochromosomes, these results indicate postzygotic formation of a Robertsonian translocation between biparentally inherited chromosomes 15. Copyright © 2001 John Wiley & Sons, Ltd. |
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| Keywords: | homologous Robertsonian translocation uniparental disomy imprinting |
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