A novel deletion in 2q24.1q24.2 in a girl with mental retardation and generalized hypotonia: A case report

Molecular Cytogenetics

Volumn 5, Issue 1, 2012, Pages

  Palumbo, Orazio ^a   Palumbo, Pietro ^a   Palladino, Teresa ^a   Stallone, Raffaella ^a   Zelante, Leopoldo ^a   Carella, Massimo ^a  

^a CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

Author keywords

2q24.1q24.2; array comparative genomic hybridization; mental retardation

Indexed keywords

ARTICLE; BRUXISM; CASE REPORT; CHILD; CHROMOSOME 2Q; CLINICAL FEATURE; COMPARATIVE GENOMIC HYBRIDIZATION; COPY NUMBER VARIATION; FEMALE; GENE DELETION; GENOTYPE PHENOTYPE CORRELATION; HIP DISLOCATION; HUMAN; KARYOTYPING; MENTAL DEFICIENCY; MICROARRAY ANALYSIS; MUSCLE HYPOTONIA; PRESCHOOL CHILD; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM;

EID: 84855229489     PISSN: None     EISSN: 17558166     Source Type: Journal    
DOI: 10.1186/1755-8166-5-1     Document Type: Article

References (9)

1. Increased nuchal translucency and split-hand/foot malformation in a fetus with an interstitial deletion of chromosome 2q that removes the SHFM5 locus. Bijlsma EK, Knegt AC, Bilardo CM, Goodman FR, Prenat Diagn 2005 25 39 44 10.1002/pd.1080 15662696 (Pubitemid 40193725)
2. 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 2006 49 255 263 10.1016/j.ejmg.2005.07.001 16762827 (Pubitemid 43817801)
3. A review of phenotype karyotype correlations in individuals with interstitial deletions of the long arm of chromosome 2. Ramer JC, Ladda RL, Frankel CA, Beckford A, Am J Med Genet 1989 32 359 363 10.1002/ajmg.1320320318 2658585 (Pubitemid 19146538)
4. The del(2)(q32.2q33) deletion syndrome defined by clinical and molecular characterization of four patients. Van Buggenhout G, Van Ravenswaaij-Arts C, Mc Maas N, Thoelen R, Vogels A, Smeets D, Salden I, Matthijs G, Fryns JP, Vermeesch JR, Eur J Med Genet 2005 48 276 289 10.1016/j.ejmg.2005.05.005 16179223 (Pubitemid 41354320)
5. Severe pulmonary emphysema in a girl with interstitial deletion of 2q24.2q24.3 including ITGB6. Takatsuki S, Nakamura R, Haga Y, Mitsui K, Hashimoto T, Shimojima K, Saji T, Yamamoto T, Am J Med Genet 2010 152A 1020 1025
6. De novo deletion of chromosome 2q24.2 region in a mentally retarded boy with muscular hypotonia. Magri C, Piovani G, Pilotta A, Michele T, Buzi F, Barlati S, Eur J Med Genet 2011 54 361 364 10.1016/j.ejmg.2010.12.011 21211576
7. Disruption of sodium bicarbonate transporter SLC4A10 in a patient with complex partial epilepsy and mental retardation. Gurnett CA, Veile R, Zempel J, Blackburn L, Lovett M, Bowcock A, Arch Neurol 2008 65 550 553 10.1001/archneur.65.4.550 18413482 (Pubitemid 351549968)
8. Genomic organization, sequence and chromosomal localization of the mouse Tbr2 gene and a comparative study with Tbr1. Ueno M, Kimura N, Nakashima K, Saito-Ohara F, Inazawa J, Taga T, Gene 2000 254 29 35 10.1016/S0378-1119(00) 00290-0 10974533
9. Expression pattern of the ether-a-gogo-related (ERG) K+ channel-encoding genes ERG1, ERG2, and ERG3 in the adult rat central nervous system. Papa M, Boscia F, Canitano A, Castaldo P, Sellitti S, Annunziato L, Taglialatela M, J Comp Neurol 2003 466 119 135 10.1002/cne.10886 14515244 (Pubitemid 37193690)