DOWN SYNDROME 47,XX+21
Genetic Forms
Trisomy 21
Due to non disjunction during meiosis division
Increased maternal age, abnormal spindle fibre, altered recombinant
Robertsonian Translocation
Translocation between extra chromosome 21 and other chromosome usually chromosome 14
Mosacism
Due to non disjunction in an early embryonic mitotic division with presistence of more than one cell
Factors of non disjunction:
Meiosis I: REDUCTION DIVISION ➡️ Meiosis II: SEPERATION DIVISION
Other chromosomal disorders
Patau Syndrome (Trisomy 13)
Edward Syndrome (Trisomy 18)
Common physical traits
Flat occiput, protruding tongue, epicanthic fold, simian crease, hypotonia
Management
Patient Centred
Therapy for speech, occupational, behavioural, physical // medical specialists
Community Support
Kiwanis Down Syndrome Foundation, Persatuan Sindrom Down Malaysia, Malaysian Care
Parents Centred
Prenatal screening: The Triple Test
Diagnostic test
Amniocentesis
Chorionic Villus Sampling
Cordocentesis
Genetic Counselling
Common medical disorders
Congenital heart defects, leukaemia, epilepsy, Hirschprung disease, early on set of Alzheimer’s