Syndromes

Question 1

Maternally inherited (mitochondrial) - progressive loss of mental and movement abilities typically resulting in death within 2-3 years

Answer 1

Leigh Syndrome

Question 2

MELAS

Answer 2

Mitochondrial Encphalopathy, Lactic Acidosis and Stroke-like Episodes

Question 3

MERRF

Answer 3

Myoclonic Epilepsy with ragged red fibers (Mitochondrial inheritance)

Question 4

LHON

Answer 4

Leber Hereditary Optic Neuropathy (Mitochondrial Inheritance)

Question 5

Del 4p16, Characteristic Facial Appearance -Wide Spaced eyes, prominent nose, delayed growth and development, intellectual disability, sezures

Answer 5

Wolf Hirschorn Syndrome

Question 6

Del 5p, Distincitve high-pitched cry, intellectual disability and delayed dev. , distinctive facial features incl. widely set eyes (hypertelorism), low-set ears, a small jaw and a rounded face

Answer 6

Cri du Chat Syndrome

Question 7

Facial features: Underdeveloped chin, low-set ears, wide-set eyes, narrow groove in the upper lip
Variable clinical effects include: Cardiac defects, poor immune system function, cleft palate, complications related to low levels of calcium in blood, delayed development

Answer 7

22q deletion syndrome, Di George, VCFS

Question 8

Found in Bone marrow cells in Chronic Myeloid Leukaemia. 46, XY, t(9:22) (q34.1;q11.2)

Answer 8

Philadelphia Chromosome

Question 9

Trisomy 21, poor muscle tone in tongue, epicanthic folds, single palmar crease, cardiac defects, intestinal stenosis, >40 years Alzheimer’s, Intellectual Disability

Answer 9

Down’s Syndrome

Question 10

Microdeletion, 1.5 Mb 7q11.23

Answer 10

Williams-Beuren Syndrome

Question 11

Trisomy 18. Prominent Occiput, rocker-bottomed feet, overlapping fingers, profound devleopmental delay, 90% mortality within first 2 years

Answer 11

Edward Syndrome

Question 12

Trisomy 13. Microlpthalmia, cleft lip & palate, post axial polydactyly. 10% survive past 1 year. Severe psychomotor developmental delay

Answer 12

Patau Syndrome

Question 13

45,X. Webbed neck, short stature, coarctation of aorta, streak ovaries, infertility, amenorrhea, broad chest and widely-spaced nipples, peripheral lymphoedema at birth, only viable monosomy

Answer 13

Turner Syndrome

Question 14

47,XXY. Tall stature, Gynaecomastia (30%), High-pitched voice, reduced body and facial hair, Hypogonadism, usually diagnosed because of infertility

Answer 14

Klinefelter Syndrome

Question 15

Missense mutation, glutamic acid to valine, 6th amino acid of normal B-globin chain

Answer 15

Sickle Cell Anaemia

Question 16

Nonsense mutation, Stop codon UAG, p.gln39x

Answer 16

Beta-thalassemia

Question 17

Stop Codons

Answer 17

UGA, UAG, UAA

Question 18

35delG in connexin 26 gene, Frameshift deletion

Answer 18

Autosomal Recessive Congenital Deafness

Question 19

DeltaF508

Answer 19

Non-frameshift deletion

Question 20

Start of exon

Answer 20

GU

Question 21

End of exon

Answer 21

AG

Question 22

Menkes disease

Answer 22

Splice-site mutation

Question 23

Loss of Function mutation, haploinsufficiency of LDL receptor, autosomal dominant, Chr 19p, xanthomas

Answer 23

Familial Hypercholesterolaemia

Question 24

Dominant negative, Autosomal dominant, mutation n FBN1 gene on Chr 15, pleiotropy in CV, ocular, skeletal systems, missense mutations

Answer 24

Marfan Syndrome

Question 25

Large head, prominent forehead, shortened limbs, normal IQ, mutation in FGFR3 gene on Chr4p, Gain of function mutation

Answer 25

Achondroplasia

Question 26

Splice-site mutation, Autosomal dominant, 100% penetrance, variable expressivity, mutation in NF-1 tumor suppressor gene, Lisch nodules, Café au Lait spots, neurofibromas

Answer 26

Neurofibromatosis Type 1