Genetic Conditions Flashcards
What syndrome would you get with trisomy 18?
Edward’s syndrome.
What are the features of Edward’s syndrome?
Babies born small and have heart defects. Small head, small jaw, clenched fists with overlapping fingers, severe intellectual disability.
What syndrome would you get with 45X?
Turner’s syndrome.
What are the features of Turner’s syndrome?
Short stature and early loss of ovarian function. Sometimes webbed neck, low hairline at back of neck, lymphoedema.
What syndrome would you get with 47XXX?
Triple X syndrome.
What are the features of triple X syndrome?
Often taller than average, usually no physical differences and normal fertility. Occasionally learning difficulties, decreased muscle tone, seizures or kidney problems.
What syndrome would you get with 47XXY?
Klinefelter’s syndrome.
What are the features of Klinefelter’s syndrome?
Male with sterility and small testicles.
What chromosome abnormality is present in DiGeorge syndrome and what developmental defect does this cause?
Deletion of a small segment of chromosome 22. Developmental defect of the 3rd/4th pharyngeal pouch.
What are the features of DiGeorge syndrome?
Causes low set ears that are abnormally folded, high forehead, cleft palate, small mouth and jaw, hypocalcaemia, oesophageal atresia, T cell lymphopenia, complex congenital heart disease.
What is the genetic defect in the philadelphia chromosome?
Reciprocal translocation of chromosome 9 and 22.
What does the philadelphia chromosome cause and how can it be treated?
Leukaemia (due to production of tyrosine kinase that is always on), treated with tyrosine kinase inhibitor (imatinib).
What is HER2 breast cancer treated with?
Trastuzamab (monoclonal antibody).
Is Lynch syndrome autosomal dominant or autosomal recessive?
Autosomal dominant.
