Genetics - general/chromosomal Flashcards
Choose the most appropriate diagnosis from the following options:
* Porphyria
* Farber disease
* Hunter syndrome
* Prolidase syndrome
* Hartnup disease
* Phenylketonuria
* Hurler syndrome
* Fabry disease
A child with a hoarse voice has swollen and painful joints. There are lipogranulomas under the skin.
Correct answer:Farber disease - ASAH1 gene
Explanation:
This is a classic description of Farber Disease, also known as Farber’s lipogranulomatosis (hoarse or weak cry, lipogranulomas and swollen, painful joints). Children may also have hepatosplenomegaly and developmental delay. Farber disease is a rare autosomal recessive condition caused by abnormal lipid metabolism. Lipids accumulate abnormally throughout the body, especially around the joints. Fabry Disease is a rare disorder that presents with neuropathic or limb pain with telangiectasias and angiokeratomas (usually affecting the groin and lower abdomen).
Choose the most appropriate diagnosis from the following options:
* Porphyria
* Farber disease
* Hunter syndrome
* Prolidase syndrome
* Hartnup disease
* Phenylketonuria
* Hurler syndrome
* Fabry disease
A child with a known diagnosis of mucopolysaccharidosis is noted to have melanocytic naevi.
Correct answer:Hurler syndrome - IUDA gene on chr4
Explanation:
Hurler syndrome (MPS I) is associated with melanocytic naevi. Melanocytic naevi are also associated with GM1 gangliosidosis type 1 but most commonly, melanocytic naevi occur in otherwise well children. Hunter syndrome (MPS II) is associated with the development of pearly papules.
Choose the most appropriate diagnosis from the following options:
* Porphyria
* Farber disease
* Hunter syndrome
* Prolidase syndrome
* Hartnup disease
* Phenylketonuria
* Hurler syndrome
* Fabry disease
A child with a known diagnosis of mucopolysaccharidosis is noted to have pearly papules.
Correct answer:Hunter syndrome - IDS gene
Explanation:
Hunter syndrome (MPS II) is associated with the development of pearly papules. Hurler syndrome (MPS I) is associated with melanocytic naevi. Melanocytic naevi are also associated with GM1 gangliosidosis type 1 but most commonly, melanocytic naevi occur in otherwise well children.
Choose the most appropriate diagnosis from the following options:
* Porphyria
* Farber disease
* Hunter syndrome
* Prolidase syndrome
* Hartnup disease
* Phenylketonuria
* Hurler syndrome
* Fabry disease
A child is poorly compliant with dietary treatment and presents with developmental delay, hypopigmentation and eczema.
Correct answer:Phenylketonuria - PAH gene
Explanation:
The textbook image of phenylketonuria is a blonde child with blue eyes, however children with classic PKU tend to just have lighter skin and hair than unaffected family members. They are also at increased risk of eczema, especially if not compliant with phenylalanine reduced diet
Gene associated with: CF
Autosomal recessive Cystic fibrosis conductance transmembrane regulator(CFTR); prevalence 1/2500
Gene associated with: sickle cell anaemia
Autosomal recessive Beta hemoglobin(HBB)
Gene associated with: albinism, oculocutaneous, type 2
Autosomal recessive Oculocutaneous albinism II(OCA2)
Gene associated with: Huntington’s disease
Autosomal dominant Huntingtin (HTT)
Gene associated with: myotonic dystrophy type 1
Autosomal dominant Dystrophia myotonica-protein kinase(DMPK)
Gene associated with: hypercholesterolaemia AD type B
Autosomal dominant Low-density lipoprotein receptor(LDLR);apolipoprotein B(APOB)
Gene associated with: NF type 1
Autosomal dominant Neurofibromin 1(NF1)
Gene associated with: NF type 2
Neurofibromin 2 (NF2)
Gene associated with: PKD type 1
Autosomal dominant Polycystic kidney disease 1(PKD1)
Gene associated with: PKD type 2
Autosomal dominant Polycystic kidney disease 2(PKD2)
Gene associated with: haemophilia A
X-linked recessive Coagulation factor VIII(F8)
Gene associated with: muscular dystrophy (Duchenne)
X-linked recessive Dystrophin(DMD)
Gene associated with: muscular dystrophy (Becker)
Gene associated with: Rett’s syndrome
X-linked dominant Methyl-CpG-bindingprotein2(MECP2)
Gene associated with: hypophosphatemic rickets, X linked dominant
X-linked dominant Phosphate-regulating endopeptidase homologue, X-linked(PHEX)
Gene associated with: Spermatogenic failure, non obstructive, Y linked
Y-linked Ubiquitin-specific peptidase 9Y, Y-linked(USP9Y)
Fragile X syndrome
X linked, trinucleotide repeat expansion, FMR1 gene
Friedreich’s ataxia
FRDA gene, trinucleotide repeat expansion disorder
spinocerebellar ataxia
SCA1, SCA 2, SCA3, ATXN1 genes; trinucleotide repeat expansion
Patau - genetics, prevalence, associations, prognosis
T13, 1/5000 liveborns, midline defects and normally grown (unlike Edwards); Median survival 10 days, 80% die by 3 months, 92% die by 1 year, Profound intellectual disability in survivors
