1 option
Chromosome abnormalities and genetic counseling / R.J. McKinlay Gardner, Grant R. Sutherland, Lisa G. Shaffer.
Holman Biotech Commons RB155.7 .G37 2012
Available
- Format:
- Book
- Author/Creator:
- Gardner, R. J. M.
- Series:
- Oxford monographs on medical genetics ; no. 61.
- Oxford monographs on medical genetics ; no. 61
- Language:
- English
- Subjects (All):
- Genetic counseling.
- Human chromosome abnormalities--Patients--Counseling of.
- Human chromosome abnormalities.
- Chromosome Aberrations.
- Genetic Counseling.
- Patients.
- Medical Subjects:
- Chromosome Aberrations.
- Genetic Counseling.
- Physical Description:
- xiv, 634 pages : illustrations ; 27 cm.
- Edition:
- Fourth edition.
- Place of Publication:
- Oxford ; New York : Oxford University Press, [2012]
- Contents:
- Part 1 Basic Concepts
- 1 Elements of Medical Cytogenetics 3
- 2 Chromosome Analysis 21
- 3 The Origins and Consequences of Chromosome Pathology 27
- 4 Deriving and Using a Risk Figure 59
- Part 2 Parent with a Chromosomal Abnormality
- 5 Autosomal Reciprocal Translocations 67
- 6 Sex Chromosome Translocations 112
- 7 Robertsonian Translocations 140
- 8 Centromere Fissions, Complementary Isochromosomes, Telomeric Fusions, Balancing Supernumerary Chromosomes, and Jumping Translocations 155
- 9 Inversions 161
- 10 Insertions 183
- 11 Autosomal Ring Chromosomes 201
- 12 Complex Rearrangements 212
- 13 Parental Sex Chromosome Aneuploidy 221
- 14 Parental Autosomal Aneuploidy 233
- 15 The Fragile X Syndromes 242
- Part 3 Variants
- 16 Variant Chromosomes and Abnormalities of No Phenotypic Consequence 257
- 17 Copy Number Changes 269
- Part 4 Normal Parents with a Chromosomally Abnormal Child
- 18 Down Syndrome, Other Full Aneuploidies, and Polyploidy 277
- 19 Structural Rearrangements 295
- 20 Chromosomal Disorders of Sex Development 333
- 21 Chromosome Instability Syndromes 341
- Part 5 Disorders Associated with Aberrant Genomic Imprinting
- 22 Uniparental Disomy and Disorders of Imprinting 351
- Part 6 Reproductive Failure
- 23 Gametogenesis and Conception, Pregnancy Loss and Infertility 377
- Part 7 Prenatal Diagnosis
- 24 Parental Age Counseling and Screening for Fetal Trisomy 403
- 25 Prenatal Diagnostic Procedures 417
- 26 Preimplantation Genetic Diagnosis 426
- 27 Chromosome Abnormalities Detected at Prenatal Diagnosis 439
- Part 8 Noxious Agents
- 28 Gonadal Cytogenetic Damage from Exposure to Extrinsic Agents 489.
- Notes:
- Includes bibliographical references and index.
- ISBN:
- 9780195375336
- 0195375335
- OCLC:
- 701450134
The Penn Libraries is committed to describing library materials using current, accurate, and responsible language. If you discover outdated or inaccurate language, please fill out this feedback form to report it and suggest alternative language.