wooo is medical genetics syndrome list tiem

Question 1

What is the mode of inheritance for and features of achondroplasia?

Answer 1

• Mode: Autosomal Dominant
• Features: Dwarfism (short limbs), mutation in FGFR3 (converts cartilage to bone)

Question 2

What is the mode of inheritance for and features of Huntington’s disease?

Answer 2

• Mode: Autosomal Dominant
• Features: Dementia and abnormal movements, starting around age 40, death within 10-15 years, results from triplet repeat (CAG in the Htt gene) expansion, shows anticipation

Question 3

What is the mode of inheritance for and features of Edwards syndrome?

Answer 3

• Mode: 47XX (or XY) + 18
• Features: Severe intellectual disability (ID), heart defects, overlapping fingers, rocker-bottom feet, unlikely to survive their first year

Question 4

What is the mode of inheritance for and features of Duchenne muscular dystrophy?

Answer 4

• Mode: X-linked Recessive
• Features: Progressive loss of muscle power, leading to respiratory failure and death by twenties, distinctive method of standing up (Gower’s manoeuvre)

Question 5

What is the mode of inheritance for and features of Down syndrome?

Answer 5

• Mode: 47XX (or XY) + 21 (trisomy 21, can occur via non-disjunction, mosaicism or a Robertsonian translocation)
• Features: Characteristic facial features, up-slanting eyes, seemingly large tongue (protrusion occurs due to lack of muscle tone rather than size), wide sandal gap, single palmar crease, heart defects, intellectual disability (ID), increased risk of heart defects, childhood leukaemia and Alzheimer’s (in later life)

Question 6

What is the mode of inheritance for and features of cystic fibrosis?

Answer 6

• Mode: Autosomal Recessive
• Features: Common in Caucasians (heterozygotes had resistance to tuberculosis), cilia defect that results in lung and pancreas problems

Question 7

What is the mode of inheritance for and features of Turner syndrome?

Answer 7

• Mode: 45X
• Features: This karyotype results in a female sex, but they are short, no puberty (often infertile), webbed neck, shield chest, wide carrying angle and with normal intelligence

Question 8

What is the mode of inheritance for and features of Marfan syndrome?

Answer 8

• Mode: Autosomal Dominant
• Features: Fibrillin defect, characteristic long, tall fingers, aortic instability so can also result in sudden death (spontaneous aortic aneurysm rupture)

Question 9

What is the mode of inheritance for and features of Angelmann syndrome?

Answer 9

• Mode: Uniparental Disomy (two copies of the paternal chromosome 15 inherited, disease caused by imprinting) or a mutation/deletion in the female Angelmann gene on chromosome 15
• Features: ‘Happy puppet syndrome’, patients are always happy with characteristic jerky movements, severe intellectual disability (ID)

Question 10

What is the mode of inheritance for and features of DiGeorge syndrome?

Answer 10

• Mode: 22q11 deletion
• Features: Mild intellectual disability (ID), cleft palate, immunodeficiency and schizophrenia in adults

Question 11

What is the mode of inheritance for and features of MELAS?

Answer 11

• Mode: Mitochondrial
• Features: MELAS = Mitochondrial Encephalopathy with Lactic Acidosis and Stroke, causes intellectual disability (ID) with metabolic issues and stroke

Question 12

What is the mode of inheritance for and features of Williams syndrome?

Answer 12

• Mode: 7q11 deletion
• Features: Mild intellectual disability (ID), ‘cocktail party chatter’ (unable to form sentences but always very willing to talk), hypercalcaemia, heart defects

Question 13

What is the mode of inheritance for and features of hypophosphataemic rickets?

Answer 13

• Mode: X-linked Dominant
• Features: Functional calcium deficiency, causes joint swelling and the appearance of bony deformities

Question 14

What is the mode of inheritance for and features of Rett syndrome?

Answer 14

• Mode: X-linked Dominant (only occurs in females, male foetuses with this mutation are incompatible with life)
• Features: Intellectual disability (ID) in girls, regression after age 1-2, abnormal hand movements (wringing of the hands)

Question 15

What is the mode of inheritance for and features of colour blindness?

Answer 15

• Mode: X-linked Recessive
• Features: Unable to discern/see certain colours

Question 16

What is the mode of inheritance for and features of Patau syndrome?

Answer 16

• Mode: 47 XX (or XY) + 13
• Features: Severe intellectual disability (ID), clefting (e.g. palate or lip), sometimes cyclopia, unlikely to survive their first year

Question 17

What is the mode of inheritance for and features of Triple X?

Answer 17

• Mode: 47XXX
• Features: Female sex, tall, mild intellectual disability (ID)

Question 18

What is the mode of inheritance for and features of albinism?

Answer 18

• Mode: Autosomal Recessive (mostly)
• Features: No pigment in hair, skin and eyes, results in susceptibility to skin cancers and vision defects

Question 19

What is the mode of inheritance for and features of Klinefelter syndrome?

Answer 19

• Mode: 47XXY
• Features: Male sex, small gonads, breast formation (‘moobs’), infertile, slight intellectual disability (ID)

Question 20

What is the mode of inheritance for and features of haemophilia?

Answer 20

• Mode: X-linked Recessive
• Features: Lack of factor VIII, causes poor blood clotting and joint pain

Question 21

What is the mode of inheritance for and features of WAGR?

Answer 21

• Mode: 11p13 deletion
• Features: WAGR = Wilms tumour (kidney, onset in childhood), Aniridia (lack of an iris), Genital abnormalities, Retardation (should use intellectual disability instead/ID, acronym for this condition is old)

Question 22

What is the mode of inheritance for and features of thanatophoric dysplasia?

Answer 22

• Mode: New mutation (Autosomal Dominant)
• Features: Lethal form of dwarfism with an abnormal skull (Thanatos = Greek god of death)

Question 23

What is the mode of inheritance for and features of Fragile X?

Answer 23

• Mode: X-linked Recessive
• Features: In boys, intellectual disability (id), large head/nose/ears and large testicles (post-pubertally), in female carriers there is premature ovarian failure Caused by CGG triple repeat expansion

Question 24

What is the mode of inheritance for and features of phenylketonuria?

Answer 24

• Mode: Autosomal Recessive
• Features: Inability to metabolise the amino acid phenylalanine, if not treated with low-phenylalanine diet, results in severe intellectual disability (ID)

Question 25

What is the mode of inheritance for and features of XYY?

Answer 25

• Mode: 47XYY
• Features: Male sex, potentially aggressive, potentially more likely to have criminal tendencies - in some countries (e.g. France), this is not recognised as a notable genetic abnormality

Question 26

What is the mode of inheritance for and features of Prader-Willi syndrome?

Answer 26

• Mode: Uniparental Disomy (two copies of maternal chromosome 15 inherited, disease caused by imprinting) or a mutation/deletion in the male PWS gene on chromosome 15
• Features: Floppy babies who will initially fail to thrive but may then grow up to have extreme obesity and slight intellectual disability (ID)

Question 27

What is the mode of inheritance for and features of MERRF?

Answer 27

• Mode: Mitochondrial
• Features: MERRF = Myoclonic Epilepsy with Ragged Red Fibres, causes intellectual disability (ID) with a characteristic appearance of muscle on biopsy

Question 28

What is the mode of inheritance for and features of Tay-Sachs disease?

Answer 28

• Mode: Autosomal Recessive
• Features: Common in Jewish population, neurodeterioration and death starting around 4-5 years old

Question 29

What is the mode of inheritance for and features of sickle cell anaemia?

Answer 29

• Mode: Autosomal recessive
• Features: Causes sickling of RBCs (abnormal shape), which results in poor oxygen carriage, painful crises and strokes (as shape of RBCs leads to occlusion of vessels)