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Duplication of 17(p11.2p11.2) in a male child with autism and severe language delay

✍ Scribed by Alisa Nakamine; Leonid Ouchanov; Patricia Jiménez; Elina R. Manghi; Marcela Esquivel; Silvia Monge; Marietha Fallas; Barbara K. Burton; Barbara Szomju; Sarah H. Elsea; Christian R. Marshall; Stephen W. Scherer; L. Alison McInnes


Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
138 KB
Volume
146A
Category
Article
ISSN
1552-4825

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Rare interstitial deletion (2)(p11.2p13)
✍ Lacbawan, Felicitas L.; White, Beverly J.; Anguiano, Arturo; Rigdon, David T.; B 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 26 KB 👁 1 views

An unbalanced 46,XY,der(2)del(2)(p11.2p13) inv(2)(p11.2q13) karyotype was found in a phenotypically abnormal child with a de novo interstitial deletion of band 2p12 associated with an inv(2)(p11.2q13) inherited from the father. The inv(2) is generally considered a benign familial variant without sig