05108nam 2200721 450 991082168190332120200520144314.01-118-98154-51-118-98155-31-118-98153-7(CKB)3710000000476472(EBL)4187360(SSID)ssj0001552818(PQKBManifestationID)16171377(PQKBTitleCode)TC0001552818(PQKBWorkID)14812657(PQKB)11045253(PQKBManifestationID)16175959(PQKB)21391728(DLC) 2015034221(Au-PeEL)EBL4187360(CaPaEBR)ebr11128386(CaONFJC)MIL831289(PPN)220105111(MiAaPQ)EBC4187360(OCoLC)935249066(EXLCZ)99371000000047647220160105h20162016 uy 0engur|||||||||||txtccrGenetic disorders and the fetus diagnosis, prevention, and treatment /edited by Aubrey Milunsky MB BCh, DSc, FRCP, FACMG, DCH, Jeff M. Milunsky MD, FACMGSeventh edition.Hoboken, New Jersey :Wiley Blackwell,2016.©20161 online resource (2122 p.)Description based upon print version of record.1-118-98152-9 Includes bibliographical references at the end of each chapters and index.Dedication; Title page; Copyright; Preface; Acknowledgements; List of Contributors; 1 Genetic Counseling: Preconception, Prenatal, and Perinatal; Incidence, prevalence and burden of genetic disorders and congenital malformations; The goal and purpose of prenatal diagnosis; Prerequisites for genetic counseling; Guiding principles for genetic counseling; Preconception genetic counseling; Genetic disorders that threaten maternal health; Maternal genetic disorders that may threaten fetal health and survival; Genetic disorders that pregnancy may aggravate; A history of infertilityParental carrier of a genetic disorder A family history of a genetic disorder; Consanguinity; Environmental exposures that threaten fetal health; Identification of preconception options; Genetic counseling as a prelude to prenatal diagnosis; Genetic counseling when the fetus is affected; Perinatal genetic counseling; References; 2 Amniocentesis, Chorionic Villus Sampling, and Fetal Blood Sampling; Introduction; Amniocentesis; Chorionic villus sampling; Fetal blood sampling; References; 3 Amniotic Fluid Constituents, Cell Culture, and Neural Tube Defects; Introduction; Amniotic fluidAmniotic fluid cell culture Prenatal diagnosis of neural tube defects (NTDs); References; Additional References; 4 Prenatal Diagnosis of Chromosomal Abnormalities through Chorionic Villus Sampling and Amniocentesis; The incidence of chromosomal abnormalities detected by conventional cytogenetics; Indications for prenatal cytogenetic diagnosis; Interpretation issues: chromosome mosaicism and pseudomosaicism; Interpretation issues: chromosome rearrangements; Interpretation issues: chromosome polymorphisms, common inversions, and other structural variationsInterpretation issues: maternal cell contamination Factors affecting diagnostic success rate and accuracy; Technical standards for prenatal cytogenetics laboratories; Conclusion; Acknowledgments; References; 5 Prenatal Diagnosis of Sex Chromosome Abnormalities; Incidence; Patterns of inheritance; Prenatal diagnosis; Turner syndrome; Klinefelter syndrome; Triple X and poly-X syndromes; 47,XYY males; Structural abnormalities of the X chromosome; Structural abnormalities of the Y chromosome; Disorders of sex development; Ovotesticular disorders of sex development; Conclusion; References6 Molecular Cytogenetics and Prenatal Diagnosis Microdeletions; Subtle/cryptic rearrangements; Identification of marker chromosomes; Structural rearrangements: duplications; Prenatal diagnosis: interphase analysis; Chorionic villus samples; Interphase studies: fetal cells in maternal blood; Interphase analysis: transcervical and uterine cavity samples; Interphase analysis: preimplantation genetic diagnosis; Conclusion; References; 7 Prenatal Diagnosis and the Spectrum of Involvement from Fragile X Mutations; Introduction; Epidemiology; Clinical involvement in those with the full mutationClinical phenotype in the premutationPrenatal diagnosisFetusDiseasesGenetic aspectsFetusAbnormalitiesGenetic aspectsPrenatal diagnosis.FetusDiseasesGenetic aspects.FetusAbnormalitiesGenetic aspects.618.3/2075Milunsky AubreyMilunsky Jeff M.MiAaPQMiAaPQMiAaPQBOOK9910821681903321Genetic disorders and the fetus3916346UNINA01164nam0 22002891i 450 UON0007874420231205102421.51888-339-0655-820020107d1996 |0itac50 baitaIT|||| |||||ˆL'‰occidentalizzazione del mondosaggio sul significato, la portata e i limiti dell'uniformazione planetariaSerge LatoucheTorinoBollati Boringhieri1996159 p.20 cm001UON000672492001 Temi25PAESI IN VIA DI SVILUPPOEconomiaUONC020150FIITTorinoUONL000014330.91724ECONOMIA DEI PAESI IN VIA DI SVILUPPO21LatoucheSergeUONV051751126207Bollati BoringhieriUONV247905650ITSOL20250207RICASIBA - SISTEMA BIBLIOTECARIO DI ATENEOUONSIUON00078744SIBA - SISTEMA BIBLIOTECARIO DI ATENEOSI *** *** SI AA 19661 7 *** SmarritoOccidentalizzazione del mondo215124UNIOR