Chromosome aberrations involving 10q22: Report of three overlapping interstitial deletions and a balanced translocation disrupting C10orf11

European Journal of Human Genetics

Volumn 18, Issue 3, 2010, Pages 291-295

  Tzschach, Andreas ^a   Bisgaard, Anne Marie ^b   Kirchhoff, Maria ^b   Graul Neumann, Luitgard M ^c   Neitzel, Heidemarie ^c   Page, Stephanie ^d   Ahmed, Alischo ^a   Müller, Ines ^a   Erdogan, Fikret ^a   Ropers, Hans Hilger ^a   Kalscheuer, Vera M ^a   Ullmann, Reinhard ^a  

^a MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

^b International Center for Research and Research Training in Endocrine Disruption of Male Reproduction and Child Health   (Denmark)

^c CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^d Westfall Pediatrics   (United States)

Author keywords

Array CGH; Balanced chromosome translocation; C10orf11; Deletion 10q22; Mental retardation

Indexed keywords

ARTICLE; CASE REPORT; CHILD; CHROMOSOME 10Q; CHROMOSOME 13P; CHROMOSOME ANALYSIS; CHROMOSOME TRANSLOCATION 10; CHROMOSOME TRANSLOCATION 13; COGNITIVE DEFECT; COMPARATIVE GENOMIC HYBRIDIZATION; FACE DYSMORPHIA; FEEDING DISORDER; FEMALE; GASTROESOPHAGEAL REFLUX; GROWTH RETARDATION; HUMAN; INFANT; INTERSTITIAL CHROMOSOME DELETION; KARYOTYPE 46,XY; MALE; MENTAL DEFICIENCY; MUSCLE HYPOTONIA; OPEN READING FRAME; PRESCHOOL CHILD; PRIORITY JOURNAL; STOMACH FUNDOPLICATION;

CHILD, PRESCHOOL; CHROMOSOME ABERRATIONS; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 10; CHROMOSOMES, HUMAN, PAIR 13; COMPARATIVE GENOMIC HYBRIDIZATION; FACIES; FEMALE; GENOME, HUMAN; HUMANS; INFANT; INFANT, NEWBORN; INTERNET; MALE; PREGNANCY; TRANSLOCATION, GENETIC;

EID: 77149134959     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2009.163     Document Type: Article

References (13)

1. Cook L, Weaver DD, Hartsfield Jr JK, Vance GH: De novo 10q22 interstitial deletion. J Med Genet 1999; 36: 71-72.
2. Balciuniene J, Feng N, Iyadurai K et al: Recurrent 10q22-q23 deletions: a genomic disorder on 10q associated with cognitive and behavioral abnormalities. Am J Hum Genet 2007; 80: 938-947.
3. Tzschach A, Krause-Plonka I, Menzel C et al: Molecular cytogenetic analysis of a de novo interstitial chromosome 10q22 deletion. Am J Med Genet A 2006; 140: 1108-1110.
4. Chen W, Erdogan F, Ropers HH, Lenzner S, Ullmann R: CGHPRO-a comprehensive data analysis tool for array CGH. BMC Bioinformatics 2005; 6: 85.
5. Arkesteijn G, Jumelet E, Hagenbeek A, Smit E, Slater R, Martens A: Reverse chromosome painting for the identification of marker chromosomes and complex translocations in leukemia. Cytometry 1999; 35: 117-124.
6. Chen W, Kalscheuer V, Tzschach A et al: Mapping translocation breakpoints by next-generation sequencing. Genome Res 2008; 18: 1143-1149.
7. Erdogan F, Chen W, Kirchhoff M et al: Impact of low copy repeats on the generation of balanced and unbalanced chromosomal aberrations in mental retardation. Cytogenet Genome Res 2006; 115: 247-253.
8. Lupski JR, Stankiewicz P: Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes. PLoS Genet 2005; 1: e49.
9. Shaw CJ, Lupski JR: Implications of human genome architecture for rearrangement-based disorders: the genomic basis of disease. Hum Mol Genet 2004; 13 (Spec No 1): R57-R64.
10. Emanuel BS: Molecular mechanisms and diagnosis of chromosome 22q11.2 rearrangements. Dev Disabil Res Rev 2008; 14: 11-18.
11. Schubert C: The genomic basis of the Williams-Beuren syndrome. Cell Mol Life Sci 2008; 66: 1178-1197.
12. Urban AE, Korbel JO, Selzer R et al: High-resolution mapping of DNA copy alterations in human chromosome 22 using high-density tiling oligonucleotide arrays. Proc Natl Acad Sci USA 2006; 103: 4534-4539.
13. Olson TM, Illenberger S, Kishimoto NY, Huttelmaier S, Keating MT, Jockusch BM: Metavinculin mutations alter actin interaction in dilated cardiomyopathy. Circulation 2002; 105: 431-437.