文档介绍：Diagnosis
of the Hereditary Disease
Medical ics
Clinical Diagnosis
History taking
Physical examination
Other examination
Pedigree analysis
Family history
Marital history: marriageable age, times of marriage, consanguineous Marriage
Childbearing history: Childbearing Age, No of Children, abortion, fetal death, pregnant history, exposure of teratogen, age of onset
History Taking
Separately
Specialists
Physical Examination
Clinical chemistry
Radiology
Supersonics
Karyotype analysis
Molecular ics
Other Examination
Pedigree Analysis
Mendelian inheritance
Non-Mendelian inheritance
Others
ics
Fragile site
In situ hybridization
ics
Growth retardation & Mental retardation
Balanced translocation & Mosaic
Affected in family
Multiple abortion woman and her husband
Infertility
Advanced maternal age
Internal/external genital malformation
Clinical Chemistry
Phenylketonuria, PKUⅠ
Enzyme activity
PAH
Liver
Blood sample
Bacillus subtilis
Guthrie test
FeCl3
Phenylpyruvic acid
Green
Newborn Screening
Gene Diagnosis
Detection of ic disorders by DNA analysis