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MG 733 Clinical Genetics
Dr. Sommer's Clinicla Genetics
21
Biology
Undergraduate 4
05/17/2011
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Term
Referral to Genetics
 Definition
  • suspected inherited metabolic abnormality
  • abnormal behavior/mental retardation
  • unusual appearance
  • newborn with multiple congenital abnormalities (minor and major anomalies)
Term
Minor Anomaly
 Definition
  • Unusual morphologic feature that is of no medical/cosmetic significance to the patient
  • Epicanthic folds
  • protruding ears
  • overlapping toes
  • depressed nasal bridge
Term
Major Anomaly
 Definition
  • Significant medical/cosmetic abnormality in the patient
  • anencephaly
  • cleft lip/palate
  • neural tube defect
  • polysyndactyly
Term
Syndrome
 Definition
  • signs/symptoms that occur together and characterize a particular anomaly
  • hereditary --> genetic counseling, prevention of recurrence
  • non-hereditary --> id aids in management/prognosis
Term
Mucopolysaccharidosis 1 H- Hurler Syndrome
 Definition
  • facial coarsening
  • cardiac involvement
  • hearing loss
  • mental retardation
  • autosomal recessive
  • lysosomal enzyme deficiency
  • Treatment: bone marrow transplant
Term
Smith-Lemli-Opitz Syndrome
 Definition
  • 1:40000
  • autosomal recessive
  • enzyme deficiency
  • growth deficiency
  • cleft palate
  • ptosis
  • microcephaly
  • polydactyly
Term
Maternal PKU Effect of Fetus
 Definition
  • too late to reverse
  • mental retardation
  • hypertonia
  • microcephaly
  • congenital heart disease
  • growth retardation
Term
Apert Syndrome
 Definition
  • irregular craniosynotosis
  • syndactyly
  • some mental retardation
  • autosomal dom
  • FDFR-2 mutation
Term
Beckwith-Wiedemann Syndrome
 Definition
  • 1:13700
  • macrosomia
  • embryonal tumors
  • hypoglycemia
  • sporadic
  • Imprinting mutation in IGF2
  • prenatal diagnosis
Term
Williams Syndrome
 Definition
  • minor growth retardation
  • normal IQ
  • cardiovascular anomalies
  • prominent lips
  • hoarse voice
  • elastin (ELN) gene deletion
Term
Chromosomal Aberrations
 Definition
  • intrauterine/postnatal growth retardation
  • dysmorphic patterns
  • malformations
  • mental retardation
  • cleft palate/lip
  • organ malformations
  • spinal bifida
Term
Trisomy 13
 Definition
  • 1:5000
  • late fetal death
  • high mother age contributes (avg=30.9)
  • cleft lip/palate
  • polydactyly
  • congential heart disease
Term
Trisomy 18 (Edwards)
 Definition
  • congenital heart disease
  • altered gestation
  • overlapping fingers
  • devt delay
Term
Down Syndrome
 Definition
  • trisomy 21
  • devt delay
  • congenital heart disease
  • non-hereditary
Term
Cri-du-Chat
 Definition
  • infant has cat-like cry
  • microcephaly
  • devt delay
  • mental retardation
Term
Turner Syndrome
 Definition
  • puffy babies
  • hearing loss
  • webbed neck
  • normal-high IQ
Term
Klinefelter Syndrome
 Definition
  • 47 chromes, XXY
  • tall stature
  • small genitalia
  • little hair (except for head)
  • dec intelligence compaired to siblings
Term
Fragile X Syndrome
 Definition
  • Mental retardation
  • large forehead/ears
  • CGG repeat in FMR1
Term
Trisomy 16p
 Definition
  • devt delay
  • microcephaly
Term
12q14 Microdeletion Syndrome
 Definition
  • severe growth retardation
  • failure to thrive
  • devt delay
  • deletion of HMGA2
Term
1p36 Deletion Syndrome
 Definition
  • epicanthic folds
  • pointed chin
  • brain abnormalities
  • congenital heart problems
  • vision and skeleton abnormalities
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