[Analysis of 4628 cases in the genetic counseling clinic].
An analysis of 4628 cases in the genetic counseling clinic of the PUMC Hospital is reported. Altogether 966 cases (20.89%) were diagnosed as genetic diseases, among which were 436 cases (45%) with chromosomal aberrations, 161 (16.70%) with inherited metabolic diseases, 111 (11.50%) with constitutional bone diseases, 103 (10.70%) with various kinds of genetic muscular diseases, 109 (11.30%) with different dysmorphic syndromes, and 46 (4.80%) with different kinds of genetic dermatoses and oculopathies. 973 cases (21.00%) were suspected to be genetic diseases but could not be proved due to a lack of specific diagnostic methods. Some of the experiences gained and the key role of genetic counseling in preventing the birth of babies with congenital defects are briefly discussed.
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D000293:Adolescent; D001847:Bone Diseases / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis*; D005817:Genetic Counseling; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008661:Metabolism, Inborn Errors / Q000175:diagnosis; D011247:Pregnancy; D011296:Prenatal Diagnosis