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