Robertsonian Translocation Karyotype

About one in a thousand newborns have a Robertsonian translocation. [4] The most frequent forms of Robertsonian translocations are between chromosomes 13 and 14, 14 and 21, and 14 and 15. [5]

Trisomy 21 is the cause of approximately 95% of observed Down syndrome, with 88% coming from nondisjunction in the maternal gamete and 8% coming from nondisjunction in the paternal gamete. [4] Mitotic nondisjunction after conception would lead to mosaicism, and is discussed later.

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