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
What is the diagnosis ?
Capillary naevus flammeus
Ear indentations
Beckwith Wiederman
What is the diagnosis ?
Excessive swearing in infancy
Cafe au lait spots
5 th finger clinodactyly
Russell silver
What is the diagnosis ?
Telangiectasia
Thymic aplasia
Hyperinsulinaemia
Ataxia telangiectasia
What is the diagnosis ?
Wormian bones
Pyloric stenosis
Lack of facial expression
Menkes
What is the diagnosis ?
Neonatal hypotonia
GH def
Hypernasal speech
Prader Willi
15q11
Paternal imprinting
What syndrome is associated with UBE3A?
Angelmans
15q11 maternal imprinting
What is the diagnosis ?
Large fontanelle
Absent corpus callosum
PDA
Zellwegers
Name the syndrome
ELN
Williams
FMR1
Fragile X
CDKN1
Beckwith Wiederman
UBE3A
Angelmans
BBS1
Bardet Biedl
FBN1
Marfans
FGFR3
Achondroplasia
TBX1
Di George
PTPN11
Noonans
Ras MAPK
Noonans and Costello
TBX5
Holt Oram
TCOF1
Treacher Collins
JAG1
Alagilles
NOTCH2
Alagilles
DHCR7
Smith Lemli Opitz
NIPBL
Cornelia de Lange
What is the Walker Murdoch sign?
Hand around wrist and thumb overlaps
For Marfans
Steinburg sign is fingers wrapped around thumb and thumb pokes out
What is the diagnosis?
Dysostosis multiplex
Corneal clouding
Hurler MPS 1
NB Hunter MPS 2 = x linked
No corneal clouding
What is the inheritance of Di George syndrome?
Autosomal dominant
