title: Analysis of 4628 cases in the genetic counselling clinic of PUMC Hospital.
abstract: An analysis of 4628 cases in the genetic counseling clinic of PUMC Hospital is reported. Althogether 966 cases (20.87%) were diagnosed as having genetic diseases, among whom were 436 cases (45.13%) with chromosome aberrations, 161 (16.67%) with inherited metabolic diseases, 111 (11.49%) with constitutional bone diseases, 103 (10.66%) with various kinds of genetic neuromuscular diseases, 109 (11.28%) with different dysmorphic syndromes, and 46 (4.76%) with different kinds of genetic dermatoses and oculopathies. 973 cases (21.02%) were suspected to suffer from some form of genetic disease, but this could not be proved due to a lack of specific diagnostic methods. 2689 cases (58.10%) were found to be unaffected by inherited diseases. Some of the experiences gained and the key role of genetic counselling in family planning are briefly discussed.
authors.forename: L Z
authors.initials: LZ
authors.lastname: Ye
authors.forename: A D
authors.initials: AD
authors.lastname: Zhang
authors.forename: H P
authors.initials: HP
authors.lastname: Shi
authors.forename: S M
authors.initials: SM
authors.lastname: Zhao
authors.forename: H Y
authors.initials: HY
authors.lastname: Luo
authors.forename: L F
authors.initials: LF
authors.lastname: Yuan
authors.forename: S W
authors.initials: SW
authors.lastname: Ma
authors.forename: S H
authors.initials: SH
authors.lastname: Li
authors.forename: Z Y
authors.initials: ZY
authors.lastname: Cheng
authors.forename: Y
authors.initials: Y
authors.lastname: Zhao
mesh_terms: D000293:Adolescent; D001848:Bone Diseases, Developmental / Q000175:diagnosis*; D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations; D005260:Female; D005817:Genetic Counseling; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008661:Metabolism, Inborn Errors / Q000175:diagnosis*; D009136:Muscular Dystrophies / Q000175:diagnosis; D014897:Spinal Muscular Atrophies of Childhood / Q000175:diagnosis