A Novel 2.3 Mb Microduplication of 9q34.3 Inserted into 19q13.4 in a Patient with Learning Disabilities

• Asıl Yazarlar: Shalinder Singh (Yazar), Fern Ashton (Yazar), Renate Marquis-Nicholson (Yazar), Jennifer M. Love (Yazar), Chuan-Ching Lan (Yazar), Salim Aftimos (Yazar), Alice M. George (Yazar), Donald R. Love (Yazar)
• Materyal Türü: Kitap
• Baskı/Yayın Bilgisi: Hindawi Limited, 2012-01-01T00:00:00Z.
• Konular: article
• Online Erişim: Connect to this object online.

Insertional translocations in which a duplicated region of one chromosome is inserted into another chromosome are very rare. We report a 16.5-year-old girl with a terminal duplication at 9q34.3 of paternal origin inserted into 19q13.4. Chromosomal analysis revealed the karyotype 46,XX,der(19)ins(19;...