DOWN SYNDROME 47,XX+21

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DOWN SYNDROME 47,XX+21

Common medical disorders

Congenital heart defects, leukaemia, epilepsy, Hirschprung disease, early on set of Alzheimer’s

Common physical traits

Management

Parents Centred

Genetic Counselling

Prenatal screening: The Triple Test

Diagnostic test

Cordocentesis

Chorionic Villus Sampling

Amniocentesis

Patient Centred

Community Support

Kiwanis Down Syndrome Foundation, Persatuan Sindrom Down Malaysia, Malaysian Care

Therapy for speech, occupational, behavioural, physical // medical specialists

Flat occiput, protruding tongue, epicanthic fold, simian crease, hypotonia

Genetic Forms

Mosacism

Due to non disjunction in an early embryonic mitotic division with presistence of more than one cell

Factors of non disjunction:

Other chromosomal disorders

Edward Syndrome (Trisomy 18)

Subtopic

Patau Syndrome (Trisomy 13)

Meiosis I: REDUCTION DIVISION ➡️ Meiosis II: SEPERATION DIVISION

Robertsonian Translocation

Translocation between extra chromosome 21 and other chromosome usually chromosome 14

Trisomy 21

Due to non disjunction during meiosis division

Increased maternal age, abnormal spindle fibre, altered recombinant