| 1 | NR2F2, del15QD
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| Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delays.
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| Ganapathi M, Matsuoka LS, March M, Li D, Brokamp E, Benito-Sanz S, White SM, Lachlan K, Ahimaz P, Sewda A, Bastarache L, Thomas-Wilson A, Stoler JM, Bramswig NC, Baptista J, Stals K, Demurger F, Cogne B, Isidor B, Bedeschi MF, Peron A, Amiel J, Zackai E, Schacht JP, Iglesias AD, Morton J, Schmetz A; Undiagnosed Diseases Network; Seidel V, Lucia S, Baskin SM, Thiffault I, Cogan JD, Gordon CT, Chung WK, Bowdin S, Bhoj E.
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| Eur J Hum Genet. Oct;31(10):1117-1124. doi: 10.1038/s41431-023-01434-5. Epub 2023 Jul 27 2023
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| 2 | NR2F2, del15QD
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| Novel de novo pathogenic variant in the NR2F2 gene in a boy with congenital heart defect and dysmorphic features.
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| Upadia J, Gonzales PR, Robin NH.
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| Am J Med Genet A. Jun;176(6):1423-1426. doi: 10.1002/ajmg.a.38700. Epub 2018 Apr 16. 2018
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| 3 | DEL15QD, IGF1R
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| IGF1R variants associated with isolated single suture craniosynostosis.
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| Cunningham ML, Horst JA, Rieder MJ, Hing AV, Stanaway IB, Park SS, Samudrala R, Speltz ML.
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| Am J Med Genet A 155(1):91-7. doi: 10.1002/ajmg.a.33781.PMID: 21204214 2011
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| 4 | DEL15QD, NR2F2
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| 5.78 Mb terminal deletion of chromosome 15q in a girl, evaluation of NR2F2 as candidate gene for congenital heart defects.
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| Nakamura E, Makita Y, Okamoto T, Nagaya K, Hayashi T, Sugimoto M, Manabe H, Taketazu G, Kajino H, Fujieda K.
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| Eur J Med Genet 54(3):354-6. Epub 2010 Dec 21.
2011
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| 5 | DEL15QD, DEL22Q11D, SRSX
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| Submicroscopic genomic alterations in Silver-Russell syndrome and Silver-Russell-like patients.
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| Bruce S, Hannula-Jouppi K, Puoskari M, Fransson I, Simola KO, Lipsanen-Nyman M, Kere J.
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| J Med Genet Med Genet. 2010 Sep 12. [Epub ahead of print]PMID: 19752157 2010
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| 6 | DEL13QD, DEL14QD, DEL15QD, DEL18QD, DEL22QD, RG14, RG20
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| Duplications in addition to terminal deletions are present in a proportion of ring chromosomes: clues to the mechanisms of formation.
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| Rossi E, Riegel M, Messa J, Gimelli S, Maraschio P, Ciccone R, Stroppi M, Riva P, Perrotta CS, Mattina T, Memo L, Baumer A, Kucinskas V, Castellan C, Schinzel A, Zuffardi O.
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| J Med Genet 45(3):147-54. Epub 2007 Nov 15. 2008
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| 7 | DEL15QD, DIH1
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| Kidney abnormalities in persons with monosomy 15q26.
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| Lurie IW.
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| Am J Med Genet A 146A(13):1761-4. Review. No abstract available. 2008
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| 8 | DEL15QD, IGF1R
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| Drayer's syndrome of mental retardation, microcephaly, short stature and absent phalanges is caused by a recurrent deletion of chromosome 15(q26.2-->qter).
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| Rump P, Dijkhuizen T, Sikkema-Raddatz B, Lemmink HH, Vos YJ, Verheij JB, van Ravenswaaij CM.
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| Clin Genet 74(5):455-62. Epub 2008 Jul 21.
2008
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| 9 | DEL15QD, IGF1R
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| Successful long-term growth hormone therapy in a girl with haploinsufficiency of the insulin-like growth factor-I receptor due to a terminal 15q26.2->qter deletion detected by multiplex ligation probe amplification.
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| Walenkamp MJ, de Muinck Keizer-Schrama SM, de Mos M, Kalf ME, van Duyvenvoorde HA, Boot AM, Kant SG, White SJ, Losekoot M, Den Dunnen JT, Karperien M, Wit JM.
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| J Clin Endocrinol Metab 93(6):2421-5. Epub 2008 Mar 18.
2008
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| 10 | DEL15QD
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| De novo subtelomeric deletion of 15q associated with satellite translocation in a child with developmental delay and severe growth retardation.
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| Rujirabanjerd S, Suwannarat W, Sripo T, Dissaneevate P, Permsirivanich W, Limprasert P.
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| Am J Med Genet A 143(3):271-6. 2007
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| 11 | DIH1, DEL15QD
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| Prenatal detection and outcome of congenital diaphragmatic hernia (CDH) associated with deletion of chromosome 15q26: two patients and review of the literature.
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| Klaassens M, Galjaard RJ, Scott DA, Bruggenwirth HT, van Opstal D, Fox MV, Higgins RR, Cohen-Overbeek TE, Schoonderwaldt EM, Lee B, Tibboel D, de Klein A.
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| Am J Med Genet A 143(18):2204-12. 2007
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| 12 | RG15, DEL15QD
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| Ring chromosome 15: characterization by array CGH.
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| Glass IA, Rauen KA, Chen E, Parkes J, Alberston DG, Pinkel D, Cotter PD.
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| Hum Genet 118(5):611-7. Epub 2005 Nov 3. 2006
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| 13 | DIH1, DEL15QD
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| Congenital diaphragmatic hernia and chromosome 15q26: determination of a candidate region by use of fluorescent in situ hybridization and array-based comparative genomic hybridization.
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| Klaassens M, van Dooren M, Eussen HJ, Douben H, den Dekker AT, Lee C, Donahoe PK, Galjaard RJ, Goemaere N, de Krijger RR, Wouters C, Wauters J, Oostra BA, Tibboel D, de Klein A.
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| Am J Hum Genet 76(5):877-82. Epub 2005 Mar 4. 2005
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| 14 | DEL15QD
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| Detection of an unexpected subtelomeric 15q26.2 --> qter deletion in a little girl: clinical and cytogenetic studies.
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| Pinson L, Perrin A, Plouzennec C, Parent P, Metz C, Collet M, Le Bris MJ, Douet-Guilbert N, Morel F, De Braekeleer M.
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| Am J Med Genet A 138(2):160-5. Review. 2005
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| 15 | DEL15QD
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| Molecular cytogenetic characterization of ring chromosome 15 in three unrelated patients.
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| Tumer Z, Harboe TL, Blennow E, Kalscheuer VM, Tommerup N, Brondum-Nielsen K.
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| Am J Med Genet A 130(4):340-4. 2004
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| 16 | IGF1R, DEL15QD, DUP15QD
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| Cell proliferation activities on skin fibroblasts from a short child with absence of one copy of the type 1 insulin-like growth factor receptor (IGF1R) gene and a tall child with three copies of the IGF1R gene.
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| Okubo Y, Siddle K, Firth H, O'Rahilly S, Wilson LC, Willatt L, Fukushima T, Takahashi S, Petry CJ, Saukkonen T, Stanhope R, Dunger DB.
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| J Clin Endocrinol Metab 88(12):5981-8. 2003
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| 17 | IGF1R, DEL15QD
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| IGF-I receptor mutations resulting in intrauterine and postnatal growth retardation.
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| Abuzzahab MJ, Schneider A, Goddard A, Grigorescu F, Lautier C, Keller E, Kiess W, Klammt J, Kratzsch J, Osgood D, Pfaffle R, Raile K, Seidel B, Smith RJ, Chernausek SD; Intrauterine Growth Retardation (IUGR) Study Group.
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| N Engl J Med 349(23):2211-22. 2003
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| 18 | SRS7, SRS17, SRSX, DEL15QD, IGF1R
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| Lack of hemizygosity for the insulin-like growth factor I receptor gene in a quantitative study of 33 Silver Russell syndrome probands and their families.
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| Abu-Amero S, Price S, Wakeling E, Stanier P, Trembath R, Preece MA, Moore GE.
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| Eur J Hum Genet 5(4):235-41. 1997
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| 19 | DEL15QD
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| Distinct 15q genotypes in Russell-Silver and ring 15 syndromes.
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| Rogan PK, Seip JR, Driscoll DJ, Papenhausen PR, Johnson VP, Raskin S, Woodward AL, Butler MG.
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| Am J Med Genet 62(1):10-5. 1996
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| 20 | DEL15QD
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| Hemizygosity at the insulin-like growth factor I receptor (IGF1R) locus and growth failure in the ring chromosome 15 syndrome.
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| Peoples R, Milatovich A, Francke U.
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| Cytogenet Cell Genet 70(3-4):228-34. 1995
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| 21 | DEL15QD, IGF1R
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| An infant with deletion of the distal long arm of chromosome 15 (q26.1----qter) and loss of insulin-like growth factor 1 receptor gene.
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| Roback EW, Barakat AJ, Dev VG, Mbikay M, Chretien M, Butler MG.
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| Am J Med Genet 38(1):74-9. 1991
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| 22 | DEL15QD
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| Phenotypic delineation of ring chromosome 15 and Russell-Silver syndromes.
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| Wilson GN, Sauder SE, Bush M, Beitins IZ.
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| J Med Genet 22(3):233-6. 1985
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