| 1 | DEL14Q12, DEL14QP, FOXG1
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| Further delineation of the phenotype of chromosome 14q13 deletions: (positional) involvement of FOXG1 appears the main determinant of phenotype severity, with no evidence for a holoprosencephaly locus.
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| Santen GW, Sun Y, Gijsbers AC, Carré A, Holvoet M, Haeringen Av, Lesnik Oberstein SA, Tomoda A, Mabe H, Polak M, Devriendt K, Ruivenkamp CA, Bijlsma EK.
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| J Med Genet 49(6):366-72. Epub 2012 May 25. 2012
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| 2 | DEL14Q12, FOXG1
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| 14q12 microdeletions excluding FOXG1 give rise to a congenital variant Rett syndrome-like phenotype.
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| Ellaway CJ, Ho G, Bettella E, Knapman A, Collins F, Hackett A, McKenzie F, Darmanian A, Peters GB, Fagan K, Christodoulou J.
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| Eur J Hum Genet ur J Hum Genet. 2012 Sep 12. doi: 10.1038/ejhg.2012.208. [Epub ahead of print]
2012
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| 3 | DEL14Q12, FOXG1, PRKD1
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| 14q12 and severe Rett-like phenotypes: new clinical insights and physical mapping of FOXG1-regulatory elements.
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| Allou L, Lambert L, Amsallem D, Bieth E, Edery P, Destrée A, Rivier F, Amor D, Thompson E, Nicholl J, Harbord M, Nemos C, Saunier A, Moustaïne A, Vigouroux A, Jonveaux P, Philippe C.
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| Eur J Hum Genet 20(12):1216-23. doi: 10.1038/ejhg.2012.127. Epub 2012 Jun 27. 2012
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| 4 | DEL14Q12, FOXG1, RTTL1
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| The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis.
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| Kortüm F, Das S, Flindt M, Morris-Rosendahl DJ, Stefanova I, Goldstein A, Horn D, Klopocki E, Kluger G, Martin P, Rauch A, Roumer A, Saitta S, Walsh LE, Wieczorek D, Uyanik G, Kutsche K, Dobyns WB.
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| J Med Genet 48(6):396-406. Epub 2011 Mar 25.
2011
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| 5 | DEL14Q12, DEL14QP
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| The proximal chromosome 14q microdeletion syndrome: Delineation of the phenotype using high resolution SNP oligonucleotide microarray analysis (SOMA) and review of the literature.
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| Torgyekes E, Shanske AL, Anyane-Yeboa K, Nahum O, Pirzadeh S, Blumfield E, Jobanputra V, Warburton D, Levy B.
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| Am J Med Genet A 155(8):1884-96. doi: 10.1002/ajmg.a.34090. Epub 2011 Jul 8. 2011
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| 6 | DEL14Q12, DEL14QP
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| 14q12 Microdeletion syndrome and congenital variant of Rett syndrome.
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| Mencarelli MA, Kleefstra T, Katzaki E, Papa FT, Cohen M, Pfundt R, Ariani F, Meloni I, Mari F, Renieri A.
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| Eur J Med Genet 52(2-3):148-52. Epub 2009 Mar 19. 2009
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| 7 | DEL14Q12, DEL14QP
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| A 3 Mb deletion in 14q12 causes severe mental retardation, mild facial dysmorphisms and Rett-like features.
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| Papa FT, Mencarelli MA, Caselli R, Katzaki E, Sampieri K, Meloni I, Ariani F, Longo I, Maggio A, Balestri P, Grosso S, Farnetani MA, Berardi R, Mari F, Renieri A.
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| Am J Med Genet A 146A(15):1994-8. 2008
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| 8 | DEL14Q12, DEL14QP, DEL2Q33, FOXG1B
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| Additional chromosomal abnormalities in patients with a previously detected abnormal karyotype, mental retardation, and dysmorphic features.
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| Bisgaard AM, Kirchhoff M, Tumer Z, Jepsen B, Brondum-Nielsen K, Cohen M, Hamborg-Petersen B, Bryndorf T, Tommerup N, Skovby F.
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| Am J Med Genet A 140(20):2180-7. 2006
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