Trisomy 8

Trisomy 8
Other namesWarkany syndrome 2
Chromosome 8
SpecialtyMedical genetics
SymptomsStunted development, moderate to severe intellectual disability, height extremes, lack of facial expression, birth defects
ComplicationsRothmund–Thomson syndrome, tricho–rhino–phalangeal syndrome, chronic myeloid leukaemia
DurationLifelong
CausesThree copies of chromosome 8
Diagnostic methodKaryotype
PrognosisUsually gestationally lethal in complete form

Trisomy 8 causes Warkany syndrome 2, a human chromosomal disorder caused by having three copies (trisomy) of chromosome 8. It can appear with or without mosaicism.

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