Citations for
1DEL2Q37, STK25
A novel 2q37 microdeletion containing human neural progenitors genes including STK25 results in severe developmental delay, epilepsy, and microcephaly.
Imitola J, Khurana DS, Teplyuk NM, Zucker M, Jethva R, Legido A, Krichevsky AM, Frangieh M, Walsh CA, Carvalho KS.
Am J Med Genet A 167A(11):2808-16. doi: 10.1002/ajmg.a.37268. Epub 2015 Aug 4. 2015
2DEL2Q37, HDAC4
The 2q37-deletion syndrome: an update of the clinical spectrum including overweight, brachydactyly and behavioural features in 14 new patients.
Leroy C, Landais E, Briault S, David A, Tassy O, Gruchy N, Delobel B, Grégoire MJ, Leheup B, Taine L, Lacombe D, Delrue MA, Toutain A, Paubel A, Mugneret F, Thauvin-Robinet C, Arpin S, Le Caignec C, Jonveaux P, Beri M, Leporrier N, Motte J, Fiquet C, Brichet O, Mozelle-Nivoix M, Sabouraud P, Golovkine N, Bednarek N, Gaillard D, Doco-Fenzy M.
Eur J Hum Genet ur J Hum Genet. 2012 Oct 17. doi: 10.1038/ejhg.2012.230. [Epub ahead of print] 2012
3BDMR, DEL2Q37, HDAC4
Dose dependent expression of HDAC4 causes variable expressivity in a novel inherited case of brachydactyly mental retardation syndrome.
Morris B, Etoubleau C, Bourthoumieu S, Reynaud-Perrine S, Laroche C, Lebbar A, Yardin C, Elsea SH.
Am J Med Genet A 158A(8):2015-20. doi: 10.1002/ajmg.a.35463. Epub 2012 Jun 29. 2012
4BDMR, DEL2Q37, HDAC4
Phenotypic variant of Brachydactyly-mental retardation syndrome in a family with an inherited interstitial 2q37.3 microdeletion including HDAC4.
Villavicencio-Lorini P, Klopocki E, Trimborn M, Koll R, Mundlos S, Horn D.
Eur J Hum Genet ur J Hum Genet. 2012 Nov 28. doi: 10.1038/ejhg.2012.240. [Epub ahead of print] 2012
5DEL1P36, DEL2Q23, DEL2Q37, SMS
Array comparative genomic hybridisation of 52 subjects with a Smith-Magenis-like phenotype: identification of dosage sensitive loci also associated with schizophrenia, autism, and developmental delay.
Williams SR, Girirajan S, Tegay D, Nowak N, Hatchwell E, Elsea SH.
J Med Genet 47(4):223-9. Epub 2009 Sep 14.PMID: 19752160 2010
6BDMR, DEL2Q37, HDAC4, SMS
Haploinsufficiency of HDAC4 Causes Brachydactyly Mental Retardation Syndrome, with Brachydactyly Type E, Developmental Delays, and Behavioral Problems.
Williams SR, Aldred MA, Der Kaloustian VM, Halal F, Gowans G, McLeod DR, Zondag S, Toriello HV, Magenis RE, Elsea SH.
Am J Hum Genet 87(2):219-228.PMID: 20691407 2010
7DEL2Q37, FARP2, HDLBP, PASK
FARP2, HDLBP and PASK are downregulated in a patient with autism and 2q37.3 deletion syndrome.
Felder B, Radlwimmer B, Benner A, Mincheva A, Tödt G, Beyer KS, Schuster C, Bölte S, Schmötzer G, Klauck SM, Poustka F, Lichter P, Poustka A.
Am J Med Genet A 149A(5):952-9. 2009
8DEL2Q37
Array-CGH analysis and clinical description of 2q37.3 de novo subtelomeric deletion.
Kitsiou-Tzeli S, Sismani C, Ioannides M, Bashiardes S, Ketoni A, Touliatou V, Kolialexi A, Mavrou A, Kanavakis E, Patsalis PC.
Eur J Med Genet 50(1):73-8. Epub 2006 Oct 11. 2007
9DEL2Q37
Chromosome 2q37 deletion: Clinical and molecular aspects.
Falk RE, Casas KA.
Am J Med Genet C Semin Med Genet 145(4):357-71. 2007
10DEL2Q37
Chromosome 2q37 deletion: clinical and molecular aspects.
Falk RE, Casas KA.
Am J Med Genet C Semin Med Genet 145C(4):357-71. Review. 2007
11DEL2Q37
Molecular cytogenetic analysis of five 2q37 deletions: refining the brachydactyly candidate region.
Chaabouni M, Le Merrer M, Raoul O, Prieur M, de Blois MC, Philippe A, Vekemans M, Romana SP.
Eur J Med Genet 49(3):255-63. Epub 2005 Aug 18. 2006
12DEL2Q37, DUP2PD
Unrelated patients with a rearrangement of chromosome 2 causing duplication of 2p23 and deletion of 2q37.
Armstrong L, Allanson JE, Weaver DD, Bevan CJ, Hobart HH.
Am J Med Genet A 134(3):299-304. Review. 2005
13DEL2Q37
Molecular analysis of 20 patients with 2q37.3 monosomy: definition of minimum deletion intervals for key phenotypes.
Aldred MA, Sanford RO, Thomas NS, Barrow MA, Wilson LC, Brueton LA, Bonaglia MC, Hennekam RC, Eng C, Dennis NR, Trembath RC.
J Med Genet 41(6):433-9. No abstract available. 2004
14DEL2Q37
Molecular characterization of a cryptic 2q37 deletion in a patient with Albright hereditary osteodystrophy-like phenotype.
Chassaing N, De Mas P, Tauber M, Vincent MC, Julia S, Bourrouillou G, Calvas P, Bieth E.
Am J Med Genet 128A(4):410-3. 2004
15DEL2Q37
Chromosome 2q terminal deletion: report of 6 new patients and review of phenotype-breakpoint correlations in 66 individuals.
Casas KA, Mononen TK, Mikail CN, Hassed SJ, Li S, Mulvihill JJ, Lin HJ, Falk RE.
Am J Med Genet 130A(4):331-9. 2004
16DEL2Q37
Deletion 2q37.3 and autism: molecular cytogenetic mapping of the candidate region for autistic disorder.
Lukusa T, Vermeesch JR, Holvoet M, Fryns JP, Devriendt K.
Genet Couns 15(3):293-301. 2004
17BDMR, DEL2Q37, GPR35
Molecular delineation of deletions on 2q37.3 in three cases with an Albright hereditary osteodystrophy-like phenotype.
Shrimpton AE, Braddock BR, Thomson LL, Stein CK, Hoo JJ.
Clin Genet 66(6):537-44. 2004
18DEL2Q37
Narrowing the candidate region of Albright hereditary osteodystrophy-like syndrome by deletion mapping in a patient with an unbalanced cryptic translocation t(2;6)(q37.3;q26).
Giardino D, Finelli P, Gottardi G, De Canal G, Della Monica M, Lonardo F, Scarano G, Larizza L.
Am J Med Genet 122A(3):261-5. 2003
19DEL1P36, DEL1Q44, DEL2Q37
Recombinants of intrachromosomal transposition of subtelomeres in chromosomes 1 and 2: a cause of minute terminal chromosomal imbalances.
Daniel A, Baker E, Chia N, Haan E, Malafiej P, Hinton L, Clarke N, Ades L, Darmanian A, Callen D.
Am J Med Genet 117A(1):57-64. Review. 2003
20DEL2Q37
Pilot assessment of the subtelomeric regions of children with autism: detection of a 2q deletion.
Wolff DJ, Clifton K, Karr C, Charles J.
Genet Med 4(1):10-4. 2002
21HPE6, DEL2Q37
Holoprosencephaly associated with an apparent isolated 2q37.1-->2q37.3 deletion.
Lehman NL, Zaleski DH, Sanger WG, Adickes ED.
Am J Med Genet 100(3):179-81. 2001
22BDMR, DEL2Q37, GBX2, GPC1, HDLBP, KIF1A
Molecular genetic delineation of 2q37.3 deletion in autism and osteodystrophy: report of a case and of new markers for deletion screening by PCR.
Smith M, Escamilla JR, Filipek P, Bocian ME, Modahl C, Flodman P, Spence MA.
Cytogenet Cell Genet 94(1-2):15-22. 2001
23DEL2Q37
Microdeletion of chromosome sub-band 2q37.3 in two patients with abnormal situs viscerum.
Reddy KS, Flannery D, Farrer RJ.
Am J Med Genet 84(5):460-8. Review. 1999
24BDMR, DEL2Q37
Wilms' tumor and gonadal dysgenesis in a child with the 2q37.1 deletion syndrome.
Viot-Szoboszlai G, et al.
Clin Genet 53 : 278-280. 1998
25BDMR, DEL2Q37
A case of Albright's hereditary osteodystrophy-like syndrome complicated by several endocrinopathies : normal Gs alpha gene and chromosome 2q37.
Sakaguchi H, et al.
J Clin Endocrinol Metab 83 : 1563-1565. 1998
26BDMR, DEL2Q37
Brachydactyly and mental retardation : an Albright hereditary osteodystrophy-like syndrome localized to 2q37.
Wilson LC, et al.
Am J Hum Genet 56 : 400-407. 1995
27DEL2Q37
Clinical phenotype associated with terminal 2q37 deletion.
Conrad B, Dewald G, Christensen E, Lopez M, Higgins J, Pierpont ME.
Clin Genet 48 : 134-139. 1995
28BDMR, DEL2Q37
Albright hereditary osteodystrophy and del(2)(q37.3) in four unrelated individuals.
Phelan MC, et al.
Am J Med Genet 58 : 1-7. 1995
29DEL2Q37
Albright hereditary osteodystrophy and del(2) (q37.3) in four unrelated individuals.
Phelan MC, Rogers RC, Clarkson KB, Bowyer FP, Levine MA, Estabrooks LL, Severson MC, Dobyns WB.
Am J Med Genet 58(1):1-7. 1995