Chromosome Abnormalities and Genetic Counseling
Oxford University Press, USA, Nov 11, 2011 - Medical - 634 pages
Chromosome abnormalities have been known for over 50 years, though the methods of analysis have become increasing more sophisticated and precise. Surprisingly, the questions that parents and families raise in genetic counseling have changed little over that period. Questions like, "Why did an abnormality happen? Why did it cause the problems we see in our child? Would it happen again in a future child? How could we avoid it happening again?" are common concerns for families. This new edition of Chromosome Abnormalities and Genetic Counseling deals with these universal questions, and in the context of the recent developments in molecular cytogenetic analysis, but retaining always the major focus on the needs of the families in which these conditions occur. Thoroughly updated once again, this richly-illustrated text combines basic concepts of chromosomal analysis with practical applications of recent advances in molecular cytogentics. The book will give counselors the information that will enable them to help concerned parents accommodate and adapt to their particular chromosomal challenges and to determine what may be, for them, the best course of action.
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abortion acrocentric adjacent-1 amniocentesis analysis aneuploidy Angelman syndrome associated autosomal balanced breakpoint carrier cell line centromere child chorionic chro chromatin chromo chromosome 15 chromosome abnormalities Clin Genet clinical conception cytogenetic defect deletion distal duplication embryos example female fertility fetal fetus Figure FISH fragile gamete gene genetic counseling genomic gonadal heterozygote homolog Hum Genet Hum Reprod hybridization imbalance imprinting inactivation infertility insertion isochromosome JMed Genet karyotype male malformation marker maternal age meiosis meiotic mental retardation microarray microdeletion miscarriage molecular monosomy mosaic trisomy mosome mother mutation nondisjunction nonmosaic novo ofthe o÷cyte outcome ovarian paracentric inversion parent patients phenotype placental postzygotic pregnancy preimplantation genetic diagnosis premutation prenatal diagnosis PrenatDiagn rare reciprocal translocation recombinant recurrence region risk Robertsonian translocation screening segment segregation sex chromosome short arm sperm subtelomeric supernumerary tion tissue trisomy 21 Turner syndrome typically unbalanced uniparental disomy women X chromosome