NeuroGenetics
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Human Chromosome Nomenclature (ISCN)
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Question 1
A child with intellectual disability and cardiac defects has a karyotype reported as 46,XX,del(22)(q11.2q11.2). This notation describes:
A
A duplication of the 22q11.2 region on the long arm
B
An interstitial deletion at band q11.2 on chromosome 22
C
A balanced translocation between chromosome 22 and another
D
A ring chromosome 22 with loss of both telomeres
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