Further characterization of microdeletion syndrome involving 2p15-p16.1

American Journal of Medical Genetics, Part A

Volumn 152 A, Issue 10, 2010, Pages 2604-2608

  Félix, Têmis Maria ^a   Petrin, Aline Lourenço ^b   Sanseverino, Maria Teresa Vieira ^a   Murray, Jeffrey C ^b  

^a HOSPITAL DE CLÍNICAS DE PORTO ALEGRE   (Brazil)

^b UNIVERSITY OF IOWA   (United States)

Author keywords

Chromosome 2; Microdeletion; Paternal origin

Indexed keywords

2P15-P16.1 MICRODELETION SYNDROME; ARTICLE; CAMPTODACTYLY; CASE REPORT; CHILD; CHROMOSOME DELETION; COGNITIVE DEFECT; CORTICAL DYSPLASIA; FEBRILE CONVULSION; FEMALE; GASTROESOPHAGEAL REFLUX; GROWTH RETARDATION; HUMAN; INFANT; KARYOTYPE 46,XX; LACTOSE INTOLERANCE; MICROCEPHALY; MICROGNATHIA; PHENOTYPE; PREMATURITY; PRESCHOOL CHILD; PRIORITY JOURNAL; PTOSIS; SINGLE NUCLEOTIDE POLYMORPHISM; ADULT; BLOOD; CHROMOSOME 2; CHROMOSOME MAP; GENE DELETION; GENETIC ASSOCIATION; GENETICS; ISOLATION AND PURIFICATION; MALE; MENTAL DISEASE; SYNDROME;

DNA;

ADULT; CHILD; CHILD, PRESCHOOL; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 2; DNA; FEMALE; GENOME-WIDE ASSOCIATION STUDY; HUMANS; MALE; MENTAL DISORDERS; MICROCEPHALY; POLYMORPHISM, SINGLE NUCLEOTIDE; SEQUENCE DELETION; SYNDROME;

EID: 78449236395     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33612     Document Type: Article

References (14)

1. Chabchoub E, Vermeesch JR, de Ravel T, de Cock P, Fryns J-P. 2008. The facial dysmorphy in the newly recognised microdeletion 2p15-p16.1 refined to a 570 kb region in 2p15. J Med Genet 45: 189-192.
2. Chandler KE, Del Rio A, Rakshi K, Springell K, Williams DK, Stoodley N, Woods CG, Pilz DT. 2006. Leucodysplasia, microcephaly, cerebral malformation (LMC): A novel recessive disorder linked to 2p16. Brain 129: 272-277.
3. Conrad DF, Andrews TD, Carter NP, Hurles ME, Pritchard JK. 2006. A high-resolution survey of deletion polymorphism in the human genome. Nat Genet 38: 75-81.
4. De Leeuw N, Pfundt R, Koolen DA, Neefs I, Scheltinga I, Mieloo H, Sistermans EA, Nillesen W, Smeets DFCM, de Vries LBA, Knoers NVAM. 2008. A newly recognised microdeletion syndrome involving 2p15-p16.1: Narrowing down the critical region by adding another patients detected by genome wide tiling path array comparative genomic hybridization analysis. J Med Genet 45: 122-124.
5. Hoyer J, Dreweke A, Becker C, Göhring I, Thiel CT, Peippo MM, Rauch R, Hofbeck M, Trautmann U, Zweier C, Zenker M, Hüffmeier U, Kraus C, Ekici AB, Rüschendorf F, Nürnberg P, Reis A, Rauch A. 2007. Molecular karyotyping in patients with mental retardation using 100K single-nucleotide polymorphism arrays. J Med Genet 44: 629-636.
6. Knight SJ, Horsley SW, Regan R, Lawrie NM, Maher EJ, Cardy DL, Flint J, Kearney L. 1997. Development and clinical application of an innovative fluorescence in situ hybridization technique which detects submicroscopic rearrangements involving telomeres. Eur J Hum Genet 5: 1-8.
7. Koolen DA, Nillesen WM, Versteeg MH, Merkx GF, Knoers NV, Kets M, Vermeer S, van Ravenswaaij CM, de Kovel CG, Brunner HG, Smeets D, de Vries BB, Sistermans EA. 2004. Screening for subtelomeric rearrangements in 210 patients with unexplained mental retardation using multiplex ligation dependent probe amplification (MLPA). J Med Genet 41: 892-899.
8. Liang J-S, Shimojima K, Ohno K, Sugiura C, Une Y, Ohno K, Yamamoto T. 2009. A newly recognized microdeletion syndrome of 2p15-p16.1 manifesting moderate developmental delay, autistic behaviour, short stature, microcephaly, and dysmorphic features: A new patient with 3.2 Mb deletion. J Med Genet 46: 645-647.
9. Menten B, Maas N, Thienpont B, Buysse K, Vandesompele J, Melotte C, de Ravel T, Van Vooren S, Balikova I, Backx L, Janssens S, De Paepe A, De Moor B, Moreau Y, Marynen P, Fryns JP, Mortier G, Devriendt K, Speleman F, Vermeesch JR. 2006. Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and multiple congenital anomalies: A new series of 140 patients and review of published reports. J Med Genet 43: 625-633.
10. Rajcan-Separovic E, Harvard C, Liu X, McGillivray B, Hall JG, Qiao Y, Hulburt J, Hildebrand J, Mickelson ECR, Holden JJA, Lewis MES. 2007. Clinical and molecular cytogenetic characterization of a newly recognised microdeletion syndrome involving 2p15-16.1. J Med Genet 44: 269-276.
11. Sagoo GS, Butterworth AS, Sanderson S, Shaw-Smith C, Higgins JPT, Burton H. 2009. Array CGH in patients with learning disability (mental retardation) and congenital anomalies: Updated systematic review and meta-analysis of 19 studies and 13, 926 subjects. Genet Med 11: 139-146.
12. Shaw-Smith C, Redon R, Rickman L, Rio M, Willatt L, Fiegler H, Firth H, Sanlaville D, Winter R, Colleaux L, Bobrow M, Carter NP. 2004. Microarray based comparative genomic hybridization (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features. J Med Genet 41: 241-248.
13. Sung SS, Brassington A-ME, Grannatt K, Rutherford A, Whitby FG, Krakowiak PA, Jorde LB, Cary JC, Bamshad M. 2003. Mutation in genes encoding fast-twich contractile proteins cause distal arthrogryoposis syndromes. Am J Hum Genet 72: 681-690.
14. Vissers LE, de Vries BB, Osoegawa K, Janssen IM, Feuth T, Choy CO, Straatman H, van der Vliet W, Huys EH, van Rijk A, Smeets D, van Ravenswaaij-Arts CM, Knoers NV, van der Burgt I, de Jong PJ, Brunner HG, van Kessel AG, Schoenmakers EF, Veltman JA. 2003. Array-based comparative genomic hybridization for the genome wide detection of submicroscopic chromosomal abnormalities. Am J Hum Genet 73: 1261-1270.