Analysis of 4628 cases in the genetic counselling clinic of PUMC Hospital.
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.
Ye
L Z
LZ
Zhang
A D
AD
Shi
H P
HP
Zhao
S M
SM
Luo
H Y
HY
Yuan
L F
LF
Ma
S W
SW
Li
S H
SH
Cheng
Z Y
ZY
Zhao
Y
Y
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