Chromosomal disorders 张成宁 zhangxianning l anju.edu.cn Tel:13105819271:88208367 Office: A705, Research Building 2012/09
Chromosomal Disorders 张咸宁 zhangxianning@zju.edu.cn Tel：13105819271; 88208367 Office: A705, Research Building 2012/09
Chromosome Disorders Are a major Category of Genetic Disease Large proportion of Reproductive wastage(miscarriages) Congenital malformations Mental retardation Significant role in pathogenesis of malignancy
Chromosome Disorders Are A Major Category of Genetic Disease • Large proportion of: – Reproductive wastage (miscarriages) – Congenital malformations – Mental retardation • Significant role in pathogenesis of malignancy
Chromosome Disorders Are a major Category of Genetic Disease Specific chromosomal abnormalities are: Responsible for >100 identifiable syndromes Collectively more common than all of the Mendelian single gene disorders together!
Chromosome Disorders Are A Major Category of Genetic Disease • Specific chromosomal abnormalities are: – Responsible for >100 identifiable syndromes – Collectively more common than all of the Mendelian single gene disorders together!
Chromosome Disorders Are a major Category of Genetic Disease 1% of live births 2 of prenatal diagnoses in women >35 yrs old 50% of all first trimester spontaneous abortions
Chromosome Disorders Are A Major Category of Genetic Disease – ~ 1% of live births – ~ 2% of prenatal diagnoses in women >35 yrs old – 50% of all first trimester spontaneous abortions
What are the indications for ordering a chromosome analysis? Growth and · Pregnancy with developmental advanced maternal abnormalities age”(AMA) Family history of · Stillbirth/ neonatal chromosome death abnormalities Infertility/history of Infertility pregnancy loss N aplasia
What are the indications for ordering a chromosome analysis? • Growth and developmental abnormalities • Family history of chromosome abnormalities • Infertility • Pregnancy with “advanced maternal age” (AMA) • Stillbirth/neonatal death • Infertility/history of pregnancy loss • Neoplasia