Genetics Flashcards
What is the pattern of inheritance in achondroplasia?
may be spontaneous but in many cases is autosomal dominant in inheritance
A mutation in the fibroblast growth factor receptor 3 gene leads to abnormally short limbs with relatively normal torso length.
What is the pattern of inheritance in von Willebrand disease?
autosomal dominant-inherited coagulopathy due to deficiency of von Willebrand factor, leading to easy bruising, epistaxis, and bleeding gums.
What is the pattern of inheritance in congenital adrenal hyperplasia?
autosomal recessive fashion. It arises from a range of mutations in genes coding for adrenal steroids and can lead to symptoms of mineralocorticoid deficiency, excessive virilisation, or ambiguous genitalia and hypogonadism.
What is Turner syndrome?
Monosomy of X chromosome, 1 third of individuals are mosaics, cystic hygroma may be seen in infancy
What are the classical features of Gaucher’s disease?
Thrombocytopaenia, splenomegaly, osteoporosis, neurological impairment
What is Gaucher’s disease?
Gaucher’s disease is an autosomal recessive disorder that results from a deficiency in the enzyme glucocerebrosidase, leading to accumulation of glucocerebrosides in leucocytes as well as the spleen, liver, bone marrow, lungs, brain, and kidneys.
What is MEN-1 associated with?
Multiple endocrine neoplasia type 1 (MEN1) is a hereditary syndrome characterised by hyperplasia, or, sometimes, adenomas of the parathyroid glands, pancreatic islet cell tumours (also known as “pancreatic neuroendocrine tumours”), and/or pituitary gland tumours. Duodenal gastrinomas, carcinoid tumours of the foregut, benign adrenal adenomas, and lipomas may also occur. Clinical features most commonly include hyperparathyroidism and asymptomatic hypercalcaemia.
What is Chediak-Higashi syndrome?
Chediak–Higashi syndrome is a rare autosomal recessive immunodeficiency state causing impaired phagocytosis, leading to recurrent pyogenic infections. It also features peripheral neuropathies and albinism (not hyperpigmentation). Neutropaenia is common.
What’s the genetic abnormality underlying DiGeorge syndrome?
a deletion affecting the chromosomal region 22q11 in 90% of cases.
What is DiGeorge syndrome?
It is characterized by a congenital defect of thymic development, which impairs T-cell maturation. T-cell–mediated immunity is impaired, leading to a predisposition to infections with viruses, protozoa, fungi, and intracellular bacteria.
