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Items: 1 to 20 of 195

1.

A 16q12 microdeletion in a boy with severe psychomotor delay, craniofacial dysmorphism, brain and limb malformations, and a heart defect.

Shoukier M, Wickert J, Schröder J, Bartels I, Auber B, Zoll B, Salinas-Riester G, Weise D, Brockmann K, Zirn B, Burfeind P.

Am J Med Genet A. 2012 Jan;158A(1):229-35. doi: 10.1002/ajmg.a.34387. Epub 2011 Dec 2.

PMID:
22140031
2.

Array-CGH revealed one of the smallest 16q21q22.1 microdeletions in a female patient with psychomotor retardation.

Tsoutsou E, Tzetis M, Giannikou K, Syrmou A, Oikonomakis V, Kosma K, Kanioura A, Kanavakis E, Fryssira H.

Eur J Paediatr Neurol. 2013 May;17(3):316-20. doi: 10.1016/j.ejpn.2012.12.004. Epub 2013 Jan 24.

PMID:
23352671
3.

Identification of a recurrent microdeletion at 17q23.1q23.2 flanked by segmental duplications associated with heart defects and limb abnormalities.

Ballif BC, Theisen A, Rosenfeld JA, Traylor RN, Gastier-Foster J, Thrush DL, Astbury C, Bartholomew D, McBride KL, Pyatt RE, Shane K, Smith WE, Banks V, Gallentine WB, Brock P, Rudd MK, Adam MP, Keene JA, Phillips JA 3rd, Pfotenhauer JP, Gowans GC, Stankiewicz P, Bejjani BA, Shaffer LG.

Am J Hum Genet. 2010 Mar 12;86(3):454-61. doi: 10.1016/j.ajhg.2010.01.038. Epub 2010 Mar 4.

4.

Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size.

Shinawi M, Liu P, Kang SH, Shen J, Belmont JW, Scott DA, Probst FJ, Craigen WJ, Graham BH, Pursley A, Clark G, Lee J, Proud M, Stocco A, Rodriguez DL, Kozel BA, Sparagana S, Roeder ER, McGrew SG, Kurczynski TW, Allison LJ, Amato S, Savage S, Patel A, Stankiewicz P, Beaudet AL, Cheung SW, Lupski JR.

J Med Genet. 2010 May;47(5):332-41. doi: 10.1136/jmg.2009.073015. Epub 2009 Nov 12.

5.

A Novel 23.1 Mb Interstitial Deletion Involving 7q22.3q32.1 in a Girl with Short Stature, Motor Delay, and Craniofacial Dysmorphism.

Del Refugio Rivera-Vega M, Gómez-Del Angel LA, Valdes-Miranda JM, Pérez-Cabrera A, Gonzalez-Huerta LM, Toral-López J, Cuevas-Covarrubias S.

Cytogenet Genome Res. 2015;145(1):1-5. doi: 10.1159/000381234. Epub 2015 Apr 2.

PMID:
25870946
6.

Genotype-phenotype relationship in a child with 2.3 Mb de novo interstitial 12p13.33-p13.32 deletion.

Fanizza I, Bertuzzo S, Beri S, Scalera E, Massagli A, Sali ME, Giorda R, Bonaglia MC.

Eur J Med Genet. 2014 Jul;57(7):334-8. doi: 10.1016/j.ejmg.2014.04.009. Epub 2014 Apr 26.

PMID:
24780630
7.

De Novo interstitial deletion 13q33.3q34 in a male patient with double outlet right ventricle, microcephaly, dysmorphic craniofacial findings, and motor and developmental delay.

McMahon CJ, Breathnach C, Betts DR, Sharkey FH, Greally MT.

Am J Med Genet A. 2015 May;167A(5):1134-41. doi: 10.1002/ajmg.a.36978. Epub 2015 Mar 21.

PMID:
25810372
8.

A case of Feingold type 2 syndrome associated with keratoconus refines keratoconus type 7 locus on chromosome 13q.

Sirchia F, Di Gregorio E, Restagno G, Grosso E, Pappi P, Talarico F, Savin E, Cavalieri S, Giorgio E, Mancini C, Pasini B, Mehta JS, Brusco A.

Eur J Med Genet. 2017 Apr;60(4):224-227. doi: 10.1016/j.ejmg.2017.01.010. Epub 2017 Jan 31.

PMID:
28159702
9.

Microdeletion at 4q21.3 is associated with intellectual disability, dysmorphic facies, hypotonia, and short stature.

Dukes-Rimsky L, Guzauskas GF, Holden KR, Griggs R, Ladd S, Montoya Mdel C, DuPont BR, Srivastava AK.

Am J Med Genet A. 2011 Sep;155A(9):2146-53. doi: 10.1002/ajmg.a.34137. Epub 2011 Aug 10.

10.

Brain malformations in a patient with deletion 2p16.1: A refinement of the phenotype to BCL11A.

Balci TB, Sawyer SL, Davila J, Humphreys P, Dyment DA.

Eur J Med Genet. 2015 Jun-Jul;58(6-7):351-4. doi: 10.1016/j.ejmg.2015.04.006. Epub 2015 May 13.

PMID:
25979662
11.

A 137-kb deletion within the Potocki-Shaffer syndrome interval on chromosome 11p11.2 associated with developmental delay and hypotonia.

Montgomery ND, Turcott CM, Tepperberg JH, McDonald MT, Aylsworth AS.

Am J Med Genet A. 2013 Jan;161A(1):198-202. doi: 10.1002/ajmg.a.35671. Epub 2012 Dec 13.

PMID:
23239541
12.

Delineation of the interstitial 6q25 microdeletion syndrome: refinement of the critical causative region.

Michelson M, Ben-Sasson A, Vinkler C, Leshinsky-Silver E, Netzer I, Frumkin A, Kivity S, Lerman-Sagie T, Lev D.

Am J Med Genet A. 2012 Jun;158A(6):1395-9. doi: 10.1002/ajmg.a.35361. Epub 2012 May 14.

PMID:
22585544
13.

High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with microdeletions of 1q43q44.

Ballif BC, Rosenfeld JA, Traylor R, Theisen A, Bader PI, Ladda RL, Sell SL, Steinraths M, Surti U, McGuire M, Williams S, Farrell SA, Filiano J, Schnur RE, Coffey LB, Tervo RC, Stroud T, Marble M, Netzloff M, Hanson K, Aylsworth AS, Bamforth JS, Babu D, Niyazov DM, Ravnan JB, Schultz RA, Lamb AN, Torchia BS, Bejjani BA, Shaffer LG.

Hum Genet. 2012 Jan;131(1):145-56. doi: 10.1007/s00439-011-1073-y. Epub 2011 Jul 29.

PMID:
21800092
14.

De novo 13q31.1-q32.1 interstitial deletion encompassing the miR-17-92 cluster in a patient with Feingold syndrome-2.

Tassano E, Di Rocco M, Signa S, Gimelli G.

Am J Med Genet A. 2013 Apr;161A(4):894-6. doi: 10.1002/ajmg.a.35781. Epub 2013 Mar 12. No abstract available.

PMID:
23495052
15.

Wide spectrum of congenital anomalies including choanal atresia, malformed extremities, and brain and spinal malformations in a girl with a de novo 5.6-Mb deletion of 13q12.11-13q12.13.

Pavone P, Briuglia S, Falsaperla R, Warm A, Pavone V, Bernardini L, Novelli A, Praticò AD, Salpietro V, Ruggieri M.

Am J Med Genet A. 2014 Jul;164A(7):1734-43. doi: 10.1002/ajmg.a.36391. Epub 2014 May 7. Review.

PMID:
24807585
16.

17q21.31 microdeletion syndrome: further expanding the clinical phenotype.

Sharkey FH, Morrison N, Murray R, Iremonger J, Stephen J, Maher E, Tolmie J, Jackson AP.

Cytogenet Genome Res. 2009;127(1):61-6. doi: 10.1159/000279260. Epub 2010 Jan 27.

PMID:
20110647
17.

The smallest de novo deletion of 20q11.21-q11.23 in a girl with feeding problems, retinal dysplasia, and skeletal abnormalities.

Posmyk R, Leśniewicz R, Gogiel M, Chorąży M, Bakunowicz-Łazarczyk A, Sielicka D, Vermeesch J, Nowakowska BA.

Am J Med Genet A. 2014 Apr;164A(4):1056-61. doi: 10.1002/ajmg.a.36394. Epub 2014 Jan 23.

PMID:
24459047
18.

An intragenic deletion of the NFIA gene in a patient with a hypoplastic corpus callosum, craniofacial abnormalities and urinary tract defects.

Rao A, O'Donnell S, Bain N, Meldrum C, Shorter D, Goel H.

Eur J Med Genet. 2014 Feb;57(2-3):65-70. doi: 10.1016/j.ejmg.2013.12.011. Epub 2014 Jan 22.

PMID:
24462883
19.

Severe neonatal presentation of Kleefstra syndrome in a patient with hypoplastic left heart syndrome and 9q34.3 microdeletion.

Campbell CL, Collins RT 2nd, Zarate YA.

Birth Defects Res A Clin Mol Teratol. 2014 Dec;100(12):985-90. doi: 10.1002/bdra.23324. Epub 2014 Nov 7.

PMID:
25380126
20.

19q13.32 microdeletion syndrome: three new cases.

Castillo A, Kramer N, Schwartz CE, Miles JH, DuPont BR, Rosenfeld JA, Graham JM Jr.

Eur J Med Genet. 2014 Nov-Dec;57(11-12):654-8. doi: 10.1016/j.ejmg.2014.08.009. Epub 2014 Sep 16.

PMID:
25230004

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