Genetic Diseases Flashcards
What is the inheritance of Duchenne muscular dystrophy?
X-linked recessive
What is the chromosomal configuration in Turner’s syndrome
1x chromosome missing - so they have 45 chromosomes instead of 46, and only 1 X chromosome, therefore
= 45, XO
What is the inheritance of Haemophilia A and B?
X-linked recessive
What is the inheritance of fragile X syndrome?
X-linked dominant
What is the inheritance of colour blindness?
autosomal recessive
What is the inheritance of G6PD deficiency?
X-linked recessive
What is the inheritance of cystic fibrosis?
autosomal recessive
What is Edwards syndrome?
Trisomy 18 (3 copies of chromosome 18 instead of 2)
What are key features of Edward’s syndrome?
- small head, low set ears
- rocker bottom feet
- clenched hands, overlapping fingers, underdeveloped thumbs
- low survival rate
What is Patau syndrome?
Trisomy 13 (three copes of chromosome 13 instead of 2)
What are key features of Patu Syndrome
Similar to Edward’s syndrome but distinguishing features are:
- Holoprosencephaly (brain doesn’t divide into two hemispheres) resulting in midline defects
- cleft palate
- polydactyly
What is the Karyotype of Klinefelter syndrome?
47,XXY (XY + extra X chromosome)
What are the key features of Klinefelter syndrome?
- Tall
- Small testes
- Infertility
What is the mutation responsible for cystic fiborosis?
Autosomal recessive mutation of CFTR gene on chromosome 7
