Chromosome Abnormalities and Genetic Counseling
Oxford University Press, Aug 28, 2003 - Medical - 604 pages
Chromosomal abnormalities can cause disability in children, and reproductive difficulty in parents. Many parents and couples seek genetic counseling in order to learn why they, or a relative, may have had a child with a particular collection of medical problems and/or intellectual disability. There may have been a history of multiple miscarriage, or infertility. They may want to know the outlook for a pregnancy, and what the risks might be. These and other questions concerning chromosome abnormalities are addressed in this standard text, which will be of interest to genetic counselors, medical geneticists, pediatricians and obstetricians, infertility specialists, and laboratory cytogeneticists. This third edition has been thorougly updated, and is richly illustrated and fully referenced. New chapters have been written on preimplantation diagnosis and on reproductive risks due to environmental agents. The practical applications of recent advances in molecular cytogentics are noted. The book will give counselors the information that will enable them to help concerned parents accommodate to their particular "chromosomal situation", and to determine what may be, for them, the best course of action.
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helpful and interestingUser Review - Miss B - Borders
Last summer, I found out that I have a translocation and I wanted more info. I found this book in the library at work and fell in love. It also interested me in the profession of genetic counseling. I ... Read full review
abortion acrocentric adjacent-1 amniocentesis analysis aneuploidy Angelman Angelman syndrome associated autosomal balanced breakpoint carrier cell line centromere chro chromatin chromo chromosomally abnormal chromosome 15 clinical conception cytogenetic daughter defect deletion Diagn distal drome duplication effect embryo ESAC example female fertility fetal fetus Figure FISH fragile function gamete gene gonadal heterozygote homolog ICSI imbalance imprinting inactivation infertility insertion isochromosome kary karyotype locus long arm male maternal age meiosis meiotic ment miscarriage mitotic molecular monosomy Mosaic Trisomy mosome mother nondisjunction nonmosaic novo oocyte otype ovarian paracentric inversion parent partial patients phenotype postzygotic pregnancy premutation prenatal diagnosis presumably probe rare rearrangement reciprocal translocation recombinant recurrence region reported retardation ring risk Robertsonian translocation saicism segment segregation sex chromosome short arm somy sperm subtelomeric telomeric tion tissue trisomy 13 trisomy 21 Turner syndrome unbalanced uniparental disomy variant viable women X chromosome