GENETICS & SYNDROMES 2006

Telomeres are best defined as: A. cis-acting DNA elements responsible for segregation of chromosomes at mitosis and meiosis. B. proteins which bind to promotor elements to initiate transcription of a gene. C. specialised structures which "cap" the ends of chromosomes. D. the major non-DNA component of chromatin. E. the sites at which crossovers occur during pachytene.

Pyloric stenosis is a disorder with polygenic inheritance. The male to female ratio is about 4:1. Who of the following is most likely to develop pyloric stenosis? A. The brother of an affected boy. B. The daughter of an affected woman. C. The daughter of an affected man. D. The son of an affected man. E. The son of an affected woman.

A mutation at the 5' end of an intron may interfere with splicing and be pathogenic. Which statement best summarises the consequence of such a mutation? A. The abnormal intron blocks transcription. B. The abnormal intron interferes with post-translational processing. C. The abnormal intron is included in the mRNA strand. D. The adjacent exon is duplicated. E. The adjacent exon is not included in the mRNA strand.

In the pedigree shown below, the individual indicated by a solid symbol is affected by an autosomal recessive disorder. No other family members are affected.

Which of the marked individuals is least likely to be a carrier of this disorder?

A. A. B. B. C. C. D. D. E. E

On average, what proportion of genetic material is shared (i.e. is identical by descent) between two first cousins? Assume the cousins are from an outbred population and there is no consanguinity in the family. A. 1/64. B. 1/32. C. 1/16. D. 1/8. E. 1/4.

A 21-month-old girl presents, with her siblings, with a viral upper respiratory tract infection. Her facial features are noted to be different from her siblings and this has been present since birth. A photograph is shown (the patient is seated in the middle). She has no history of feeding or breathing difficulties as an infant. On examination her eye movements are normal with normal pupillary responses. Her smile is equal and symmetrical. What is the most likely diagnosis?

A. Bilateral facial nerve (VII) palsy. B. Bilateral oculomotor (III) nerve palsy. C. Congenital myasthenia gravis. D. Congenital ptosis. E. Mbius syndrome.

Genomic imprinting is best defined as: A. a process by which there is selective expression of either the paternally or maternally inherited allele of a gene. B. inheritance of both copies of a chromosome from one parent. C. massive amplification of a triplet repeat sequence within a gene. D. skewing of X-inactivation. E. the combined effect on a chromosomal locus of methylation of DNA and acetylation of associated histones.

GENETICS & SYNDROMES 2007A

QUESTION 4
In an X-linked disorder which has no effect on reproductive fitness or life expectancy, the expected ratio of affected (hemizygous) males to carrier (heterozygous) females is closest to: A. 1:3. B. 1:2. C. 1:1. D. 2:1. E. 3:1.

QUESTION 14
A woman presents for genetic counselling early in her first pregnancy. Her husband has a disorder caused by a mitochondrial DNA point mutation; several other members of his family are also affected. The risk that this baby will be affected by the same condition is closest to: A. 0%. B. 5%. C. 25%. D. 50%. E. 100%.

QUESTION 25
Patients with isolated hemihypertrophy are at increased risk of intra-abdominal tumours. Which of the following tumors is the most likely to develop? A. Adrenal carcinoma. B. Hepatoblastoma. C. Neuroblastoma. D. Phaeochromocytoma. E. Wilms tumour

QUESTION 56
A three-year-old girl is diagnosed with adrenocortical carcinoma. Her maternal aunt died from osteosarcoma at 12 years of age, and her maternal grandmother was treated for breast carcinoma in her early forties. A familial tumour predisposition syndrome is suspected. The most likely mechanism for this is a germline mutation in which of the following genes? A. APC. B. NF1. C. p53. D. RB1. E. RET.

GENETICS & SYNDROMES 2007B

QUESTION 5
A 15-year-old girl presents with a history of deterioration of night vision and peripheral vision. Her past history includes mild global developmental delay, obesity and surgery in infancy for 4-limb post-axial polydactyly. Eye examination reveals a pigmentary retinopathy. The most likely diagnosis is: A. autosomal recessive retinitis pigmentosa. B. bardet-biedl syndrome. C. choroideraemia. D. McKusick-kaufman syndrome. E. refsum disease.

QUESTION 26
Which of the following observations regarding a rare disorder would provide the best evidence of autosomal dominant inheritance? A. Father and son affected. B. Father and daughter affected. C. Mother and son affected. D. Mother and daughter affected. E. Male and female cousins affected.

QUESTION 24
A two-year-old boy is found to have severe bilateral sensorineural deafness. There is no family history of note. On examination, he has partial heterochromia iridis, white eyelashes, a broad nasal bridge with telecanthus, and several depigmented patches on his trunk and limbs. What is the most likely diagnosis? A. Branchio-oto-renal syndrome. B. Oculo-cutaneous albinism. C. Pendred syndrome. D. Tuberous sclerosis. E. Waardenburg syndrome.

GENETICS & SYNDROMES 2008

GENETICS & SYNDROMES REM + PP 2009

Question 17 A child presents with tetralogy of Fallot and a submucous cleft palate. What is the most likely cause for this phenotype?

A) B) C) D)

Aneuploidy Contiguous gene deletion In-utero sequence Maternal toxin ingestion

Question 29 A pregnant woman consults you regarding the chances of her child being affected by cystic fibrosis. She has two siblings who have cystic fibrosis. A pedigree is shown [The pregnant womans parents were unaffected, her partner is unaffected] Considering the carrier frequency for cystic fibrosis in the general population is 1 in 25, what are the chances of her unborn child having cystic fibrosis? A) B) C) D) E) 1/50 1/75 1/100 1/150 1/300

Question 31 Which of the following is embryologically defective in the 22q11 deletion? A) B) C) D) E) 1st and 2nd pharyngeal arches 1st and 2nd branchial arches 2nd and 3rd pharyngeal arches 2nd and 3rd branchial arches 3rd and 4th pharyngeal arches

Question 47 A boy is diagnosed with schizophrenia. He has a dizygotic twin brother and another male sibling. What is the risk of schizophrenia of the twin and the other sibling? A5% B10% C20% in twin and 10% in sibling D50% in twin and 10% in sibling E50% in twin and 5% in sibling Question 55 What is the most common CFTR gene mutation in Caucasians? A) A three nucleotide deletion in the F508 gene B) A three nucleotide insertion in the F508 gene

C) Deletion of phenylalanine at position 508 of the protein D) Substitution of aspartate for phenylalanine at position 508 of the protein E) Substitution of aspartate for phenylalanine at position 508 of the gene Question 37 A 15 year-old boy presents with rectal bleeding. Colonoscopy shows >200 polyps. The diagnosis is subsequently confirmed as familial adenomatous polyposis coli. What is the chance of developing colorectal neoplasia in FAP in the pts lifetime? A) B) C) D) E) 20 % 40 % 60 % 80 % 100 %

Question 43 A 3 year-old boy presents with elbow pain after being pushed into a doorframe at day-care. He has a past history of a tracheo-oesophageal fistula which was repaired in infancy. He also has butterfly vertebrae of T11 noted incidentally noted on X-ray and GORD requiring treatment. On examination, he complains of elbow pain, and has limitation of pronation. X-ray forearm given [Shows union of radius and ulna proximally, no obvious fractures and normal bone density]

What is the most likely diagnosis? A) Ulnar fracture

B) C) D) E)

Humeral (condyle) fracture Radial head dislocation Radial-ulnar synostosis Rickets

Question 52 An infant is diagnosed with Downs Syndrome which is confirmed on FISH study. In terms of genetic counseling, what is the most important reason that a full karyotype is required on this infant? A) B) C) D) E) To detect other chromosomal defects in the child Robertsonian translocation involving Chromosome 21 Aneuploidy To detect mosaicism FISH has poor specificity

Question 74 A previously well child presents with recurrent abdominal pain. There are no other bowel symptoms. Upper and lower GI studies demonstrate polyps. His face has the appearance below.

[Photo given of mouth with freckle-like markings on lips and peri-oral region] What is the most likely diagnosis? A) B) C) D) E) F) Familial adenomatous polyposis Juvenille polyposis LEOPARD syndrome NF 1 Peutz-Jegher syndrome

GENETICS & SYNDROMES REMEMBERED 2010

A couple meet at a Short Peoples Convention. The male partner has acondroplasia, and he is the only member of his family to have the disease. The female partner is of normal stature but her brother has acondroplasia. What is the chance that they will have a child with achondroplasia? a) <1% b) 25% c) 50% d) 75%

e) 100% When fluorescent in situ hybridization (FISH) is used for antenatal diagnosis, which genetic abnormality is most likely to be detected? a. Aneuploidy b. Deletions c. Duplications d. Mosaicism e. Translocations

A female infant who has features of Turner syndrome is noted to have an ejection systolic murmur. What is the most likely diagnosis? A) B) C) D) E) ASD Bicuspid aortic valve Coarcation of the aorta Peripheral pulmonary stenosis VSD

A newborn baby is found to be severely hyperbilirubinaemic within 24 hours after birth. There is a family history of similar neonatal jaundice. A family tree of the phenotype is shown:

What is the most likely condition to have caused this presentation? A) B) C) D) E) Alpha 1 antitrypsyn deficiency Galactosaemia Crigler-Najjir D.Gilbert syndrome Glucose 6 phosphate deficiency

What is the most common mode of genetic mechanism for retinoblastoma in children? A) B) C) D) E) somatic mutation and loss of heterozygosity germline mutation and loss of heterozygosity mutation of both somatic gene ??? ???