Statistics by Disease Flashcards
Turner Syndrome:
- Percentage of Conceptuses
- Percentage of Live births
2% of conceptuses
1/2500 live births
Kleinfelter Syndrome
- Rate of live births
- Rate of infertility
- Rate of High level infertility
1/500 male births
1/50 infertility
1/7 high infertility
Down Syndrome
- Rate of live birth
- Rate of conceptus fatality
- Rate of three major causes/manifestations
-1/700 live births
-75% fetally fatal
-94% Maternal Non-disjunction
1-3% Mosaics
3-4% Translocation
Edwards Syndrome
- Rate of live births
- Rate of conceptus fatality
- Recurrence risk
- Average age of fatality
-1/7500
-95% fetally fatal
-1% if de novo, 2% if parent translocon carrier
-75% die by 3 mo of age
90% die by 1 yr of age
Patau Syndrome
- Rate of live births
- Rate of conceptus fatality
- Recurrence risk
- Average age of fatality
-1/10-12000 live births
-95% fail to reach term-
-1% if de novo, 2% if parent translocon carrier
-75% die by 3 mo of age
95% die by 3 yr of age
Down Syndrome
- Recurrence with Robertsonian Translocation
- Recurrence with Robertsonian Isotranslocation
Recurrence risk with the mother having translocation is about 16%
Recurrence risk with the father having translocation is about 5%
Recurrence risk with a Robertsonian Isotranslocation is 100%, unless it occurs with a mitotic nondisjunction (i.e. a mosaic) where it is 1%
Repeat differential in Huntingtin Gene:
- Normal
- Abnormal
Normal repeats =10-30
Abnormal repeats = 36-121
Heterozygous load of hemochromatosis
Birth rate of patients with hemochromatosis
8-11%
1/300
Ratio of males to females in non-fatal X-linked dominant diseases
1:2
Percent of Retts Syndrome cases who are male
~0% (lethal to non-Kleinfelter’s males)
Percent of Inconscientia Pigmenti cases who are male
~0% (lethal to non-Kleinfelter’s males)
Odds of mother being a carrier for an X-linked condition if she produces a male with poor fitness
2/3
Point at which a germline mosaic considered
Two affected males, but mother is a negative carrier
Number of CAG repeats in Myotonic Dystrophy:
Normal
Mild
Severe
- 5-30 repeats normal
- 50-80 repeats mild affect
- 2000+ repeats severe affect
Risk of inheriting Leben Hereditary Optic Neuropathy from each parent
Dad–0%
Mom–Variable, but high (she may have normal mitochondria that exhibit heteroplasmy or homoplasmy in her germ line)
Velo-cardio-facial syndrome
-Rate of de novo versus inherited mutations
93% of cases are de novo 7% of cases are inherited
Angelman syndrome
-Rates of inheritance
70%= The loss of the mother’s contribution of the Angelman gene via deletion
7% by paternal unidisomy
3% by inappropriate imprinting of mother’s copy
10% by activated silencers in mother’s copy
10% by mutations in mother’s copy
Tuberous Sclerosis
-Rates of de novo versus inherited mutation
66% de novo
34% inherited
Achondroplasia-
Rate of de novo mutation
Survival chances of a homozygous dominant
80% de novo
0% of homozygous dominant cases survive
Williams syndrome
Rate of de novo mutation
99% of cases are de novo
Wolf-Hirschhorn Syndrome
Rate of de novo mutation
Rate of inheritance from translocon parent
85% of cases are de novo deletion
15% of cases are inherited unbalanced translocations
Cri-du-chat
Rate of de novo mutation
Rate of inheritance from translocon parent
85% of cases are de novo deletion
15% of cases are inherited unbalanced translocations
Marfan Syndrome
Rate of de novo mutation
25%
