Genetic/Chromosomal Disorders Flashcards
What is the definition of chromosomal/genetic abnormalities?
Clinical conditions caused by an abnormal chromosome constitution in which there is extra or missing chromosome material
What factors predispose to chromosome disorders?
maternal age >35 years
Hx. previous chromosomal disorder
parent has balanced translocation
diagnosis of foetal abnormality suggestive of chromosomal disorders
What are the indications for chromosome analysis?
Hx. recurrent spontaneous abortions
Hx. Stillbirth
Hx. previous child with certain physical/chromosomal abnormalities
neonate with at least two dysmorphic features
What are the six stages of the 1st examination of the neonate?
consent
preparation
observation
examination
explanation
documentation
What are the classifications of chromosomal abnormalities?
numerical
structural
mosaicism
What is trisomy 21?
Down’s Syndrome
What is trisomy 18?
Edward’s Syndrome
What is trisomy 13?
Patau Syndrome
What’s also known as “Ullrich-Turner syndrome”
Turners Syndrome
What types of inherited single gene disorders are there?
autosomal dominant
autosomal recessive
sex chromosome disorders
What are sex chromosome disorders?
X-linked recessive
