| 1 | DUP14QP, FOXG1, UPD14M
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| West syndrome associated with mosaic duplication of FOXG1 in a patient with maternal uniparental disomy of chromosome 14.
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| Tohyama J, Yamamoto T, Hosoki K, Nagasaki K, Akasaka N, Ohashi T, Kobayashi Y, Saitoh S.
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| Am J Med Genet A 155A(10):2584-8. doi: 10.1002/ajmg.a.34224. Epub 2011 Sep 9.
2011
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| 2 | DUP14QP, FOXG1
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| Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment.
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| Brunetti-Pierri N, Paciorkowski AR, Ciccone R, Mina ED, Bonaglia MC, Borgatti R, Schaaf CP, Sutton VR, Xia Z, Jelluma N, Ruivenkamp C, Bertrand M, de Ravel TJ, Jayakar P, Belli S, Rocchetti K, Pantaleoni C, D'Arrigo S, Hughes J, Cheung SW, Zuffardi O, Stankiewicz P.
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| Eur J Hum Genet 19(1):102-7. Epub 2010 Aug 25.
2011
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| 3 | DEL21QP, DUP14QP
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| Inherited 14q duplication and 21q deletion: A rare adjacent-2 segregation in multiple family members.
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| Dave BJ, Olney AH, Zaleski DH, Pickering DL, Becker TA, Chipman HE, Sanger WG.
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| Am J Med Genet A 149A(10):2248-2253. [Epub ahead of print]
2009
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| 4 | DUP14QP, FOXG1
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| 4.45 Mb microduplication in chromosome band 14q12 including FOXG1 in a girl with refractory epilepsy and intellectual impairment.
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| Yeung A, Bruno D, Scheffer IE, Carranza D, Burgess T, Slater HR, Amor DJ.
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| Eur J Med Genet 52(6):440-2. Epub 2009 Sep 20.PMID: 19772934 2009
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| 5 | DEL21QP, DUP14QP
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| Recurrent adjacent-2 segregation of a familial t(14;21)(q11.2;q11.2): phenotypic comparison of two brothers and a paternal aunt inheriting the der(14).
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| Chen E, Choe MA, Loughman WD, Covert S, Bitts S, Rowe A, Beischel L, Johnson JP.
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| Am J Med Genet A 132A(2):164-70.
2005
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