Genetic Flashcards
What are the features of Bardet Biedl syndrome ?
Autosomal recessive ciliopathy BBS1, BBS10 Retinitis pigmentosa (loss of night vision) Obesity Post axial polydactyly Intellectual disability Renal abnormalities Genital abnormalities
Name 5 syndromes associated with increased risk of Wilm’s tumour
Beckwith Wiederman (hemihypertrophy)
Denys Drash
Frasier syndrome (kidney, genitourinary)
Simpson-Golabi-Behmel (overgrowth syndrome)
WAGR syndrome (Wilms, aniridia, genitourinary, retardation)
What is the classic triad characteristic of Klippel Trenaunay syndrome ?
Port wine stain
vascular malformations
Soft tissue and bone hypertrophy
What are the characteristics of Zellweger syndrome ?
Peroxisomal biogenesis disorder - inability to import protein into organelle
Facies: high forehead, upslanting palpebral fissures, hypoplastic supraorbital ridges, epicanthic folds
Neurological abnormalities - hypotonia, seizures Cataracts PDA Hepatomegaly Death < 1 year
What is the most common cardiac lesion associated with Neurofibromatosis?
Pulmonary stenosis
What pattern of inheritance suggests autosomal dominant ?
Father and son affected
What karyotype would you expect for a baby with puffy feet ?
45XO
Turners
Myxoedema
What is the diagnosis for a deletion of 16p13.3?
Rubinstein Taybi
What is the diagnosis ?
Brushfield spots
Glue ear
5th ginger hypoplasia
Down syndrome
What is the diagnosis ?
Beak nose
Overlapping fingers
Rockerbottom feet
Edwards syndrome
What is the diagnosis ?
Shy
Tall
Small gonads
Klinefelters
What is the diagnosis ?
IUGR
Stellate iris
Supravalvular aortic stenosis
Williams
What is the syndrome associated with ELN gene deletion
Williams
7q11
What is the syndrome associated with FMR1 gene ?
Fragile X
Triplet repeat CGG Xq21
> 200 repeats
What is the diagnosis ?
Fam history of ataxia and early menopause
Autism
Mitral valve prolapse
Fragile X
What syndrome is associated with CDKN1 gene ?
Beckwith wiederman
11p15 maternal imprinting
