Prenatal diagnosis and genetic screening : community and service implications / a report of the Royal College of Physicians.

  • Royal College of Physicians of London.
Date:
1989
Catalogue details

Licence: Attribution-NonCommercial 4.0 International (CC BY-NC 4.0)

Credit: Prenatal diagnosis and genetic screening : community and service implications / a report of the Royal College of Physicians. Source: Wellcome Collection.

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    Chromosome constitution Name of syndrome + (birth incidence) Effects Autosomes 47 ( + 21) Down’s syndrome (1/600-1/1000) Severely mentally retarded Reduced survival Malformations common 47 (+18) Edward’s syndrome (1/3000) Very severely retarded Growth retarded 47 (+13) Patau syndrome (1/5000') Multiple malformations Survival < 1 year Mosaics (part normal, part abnormal) — Often severely affected Sex chromosomes: 47 (XXY) Klinefelter syndrome (1/700 males) Mild educational handicap Tall, slightly feminised Usually infertile 45 (XO) Turner’s syndrome (1/2500 females) Short stature Infertile Some congenital malformations 47 (XXX) (1/800 females) Mild educational handicap Some infertile Occasional psychiatric problems 47 (XYY) < 1/800 males Usually little effect Mosaics Partial effects Table 4. Incidence of some severe inherited diseases and their approximate carrier frequency in the UK Disorder and inheritance Birth incidence per 100,000 Incidence of healthy carriers Dominant Huntington’s chorea 70 Approximately equal to the incideno Neurofibromatosis 30 Multiple polyposis coli 10 of disease; ie few, and mostly Adult polycystic kidney disease 80 relatives of patients X-linked Fragile X mental retardation ~ 70 About twice the incidence of the Duchenne muscular dystrophy 13 disease; ie relativelv few, and most ar Haemophilia A 5 female relatives of patients Recessive Carriers (% of the population) Cystic fibrosis (CF) 50 4-5 Phenylketonuria (PKU) 20-50 1-4 In certain ethnic groups'. Thalassaemia 30-700 3-17 Sickle cell disease 10-2,000 2-25 Tay-Sachs disease 20-40 3-4