Helen V. Firth, Jane A. Hurst and Judith G. Hall

in Oxford Desk Reference - Clinical Genetics

Published on behalf of Oxford University Press

ISBN: 9780192628961
Published online October 2011 | e-ISBN: 9780191725715 | DOI:

Series: Oxford Desk Reference


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Chapter contents

22q11 deletion syndrome - 47,XXX - 47,XXY - 47,XYY - Autosomal reciprocal translocations—background - Autosomal reciprocal translocations—familial - Autosomal reciprocal translocations—postnatal - Autosomal reciprocal translocations—prenatal - Cell division—mitosis, meiosis, and non-disjunction - Chromosomal mosaicism—postnatal - Chromosomal mosaicism—prenatal - Deletions and duplications - Down syndrome (trisomy 21) - Edwards’ syndrome (trisomy 18) - Inversions - Mosaic trisomy 8 - Mosaic trisomy 16 - Patau syndrome (trisomy 13) - Prenatal diagnosis of sex chromosome aneuploidy - Ring chromosomes - Robertsonian translocations - Sex chromosome mosaicism - Submicroscopic chromosomal abnormalities and the chromosomal phenotype - Supernumerary marker chromosomes (SMCs)—postnatal - Supernumerary marker chromosomes (SMCs)—prenatal - Triploidy (69,XXX, 69,XXY, or 69,XYY) - Turner syndrome, 45,X and variants - X-autosome translocations

Chapter.  39847 words.  Illustrated.

Subjects: Clinical Genetics

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