Submicroscopic terminal deletion of 1p36.3 and Xp23 hidden in complex chromosome rearrangements: Independent mechanism of telomere restitution on the two chromatids

American Journal of Medical Genetics

Volumn 117 A, Issue 3, 2003, Pages 261-267

  Reddy, Kavita S ^a,b   Yang, Xiaojing ^a  

^a QUEST DIAGNOSTICS NICHOLS INSTITUTE   (United States)

^b NONE   (United States)

Author keywords

Complex rearrangements; Telomere restitution; Terminal deletions

Indexed keywords

ADOLESCENT; AMNIOCENTESIS; ARTICLE; CASE REPORT; CHROMATID EXCHANGE; CHROMOSOME 1P; CHROMOSOME 1P36.3; CHROMOSOME ANALYSIS; CHROMOSOME BREAKAGE; CHROMOSOME DELETION; CHROMOSOME PAINTING; CHROMOSOME REARRANGEMENT; CHROMOSOME TRANSLOCATION 9; CHROMOSOME XP; CHROMOSOME XP23; DNA PROBE; ECHOGRAPHY; FACE DYSMORPHIA; FEMALE; FETUS; FLUORESCENCE IN SITU HYBRIDIZATION; GROWTH RETARDATION; HUMAN; HUMAN CELL; HUMAN TISSUE; HYDROCEPHALUS; INFANT; INTRAUTERINE GROWTH RETARDATION; KARYOTYPE; MEIOSIS; PRIORITY JOURNAL; SEX CHROMOSOME MOSAICISM; SISTER CHROMATID; TELOMERE; BIOLOGICAL MODEL; CHROMATID; CHROMOSOME 1; GENE TRANSLOCATION; GENETICS; KARYOTYPING; METABOLISM; REVIEW; X CHROMOSOME;

CHROMATIDS; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 1; CHROMOSOMES, HUMAN, X; FEMALE; FETUS; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; KARYOTYPING; MODELS, GENETIC; TELOMERE; TRANSLOCATION, GENETIC;

EID: 0043180462     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.10108     Document Type: Article

References (15)

1. Ballif BC, Kashork CD, Shaffer LG. 2000. FISHing for mechanisms of cytogenetically defined terminal deletions using chromosome specific subtelomeric probes. Eur J Hum Genet 8(10):764-770.
2. Borg I, Squire M, Menzel C, Stout K, Morgan D, Willatt L, O'Brien PCM, Ferguson-Smith MA, Ropers HH, Tommerup N, Kalscheuer VM, Sargan DR. 2002. A cryptic deletion of 2q35 including part of the PAX3 gene detected by breakpoint mapping in a child with autism and a de novo 2;8 translocation. J Med Genet 39:391-399.
3. Cotter PD, Kaffe S, Li L, Gershin IF, Hirschhorn K. 2001. Loss of subtelomeric sequence associated with a terminal inversion duplication of the short arm of chromosome 4. Am J Med Genet 102(1):76-80.
4. Flint J, Wilkie AO, Buckle VJ, Winter RM, Holland AJ, McDermid HE. 1995. The detection of subtelomeric chromosomal rearrangements in idiopathic mental retardation. Nat Genet 9(2):132-140.
5. Knight SJ, Regan R, Nicod A, Horsley SW, Kearney L, Homfray T, Winter RM, Bolton P, Flint J. 1999. Subtle chromosomal rearrangements in children with unexplained mental retardation. Lancet 354(9191):1676-1681.
6. Kumar A, Becker LA, Depinet TW, Haren JM, Kurtz CL, Robin NH, Cassidy SB, Wolff DJ, Schwartz S. 1998. Molecular characterization and delineation of subtle deletions in de novo "balanced" chromosomal rearrangements. Hum Genet 103(2):173-178.
7. Lorda-Sanchez I, Lopez-Pajares I, Roche MC, Sanz R, Rodriguez de Alba M, Gonzalez-Gonzalez MC, Ibanez A, Ramos C, Ayuso C. 2000. Cryptic 6q subtelomeric deletion associated with a paracentric inversion in a mildly retarded child. Am J Med Genet 95(4):336-338.
8. Mefford HC, Trask BJ. 2002. The complex structure and dynamic evolution of human subtelomeres. Nat Rev Genet (Review) 3(2):91-102.
9. Meschede D, Exeler R, Wittwer B, Horst J. 1998. Submicroscopic deletion in 14q32.3 through a de novo tandem translocation between 14q and 21p. Am J Med Genet 80(5):443-447.
10. Rossi E, Piccini F, Zollino M, Neri G, Caselli D, Tenconi R, Castellan C, Carrozzo R, Danesino C, Zuffardi O, Ragusa A, Castiglia L, Galesi O, Greco D, Romano C, Pierluigi M, Perfumo C, Di Rocco M, Faravelli F, Dagna Bricarelli F, Bonaglia M, Bedeschi M, Borgatti R. 2001. Cryptic telomeric rearrangements in subjects with mental retardation associated with dysmorphism and congenital malformations. J Med Genet 38(6):417-420.
11. Shaikh TH, Kurahashi H, Emanuel BS. 2001. Evolutionarily conserved low copy repeats (LCRs) in 22q11 mediate deletions, duplications, translocations, and genomic instability: An update and literature review. Genet Med (Review) 3(1):6-13.
12. van der Maarel SM, Deidda G, Lemmers RJ, van Overveld PG, van der Wielen M, Hewitt JE, Sandkuijl L, Bakker B, van Ommen GJ, Padberg GW, Frants RR. 2000. De novo facioscapulohumeral muscular dystrophy: Frequent somatic mosaicism, sex-dependent phenotype, and the role of mitotic transchromosomal repeat interaction between chromosomes 4 and 10. Am J Hum Genet 66(1):26-35.
13. van Overveld PG, Lemmers RJ, Deidda G, Sandkuijl L, Padberg GW, Frants RR, van der Maarel SM. 2000. Interchromosomal repeat array interactions between chromosomes 4 and 10: A model for subtelomeric plasticity. Hum Mol Genet 9(19):2879-2884.
14. Wilkie AO. 1993. Detection of cryptic chromosomal abnormalities in unexplained mental retardation: A general strategy using hypervariable subtelomeric DNA polymorphisms. Am J Hum Genet (Review) 53(3):688-701.
15. Wirth J, Nothwang HG, van der Maarel S, Menzel C, Borck G, Lopez-Pajares I, Brondum-Nielsen K, Tommerup N, Bugge M, Ropers HH, Haaf T. 1999. Systematic characterization of disease associated balanced chromosome rearrangements by FISH: Cytogenetically and genetically anchored YACs identify microdeletions and candidate regions for mental retardation genes. J Med Genet 36(4):271-278.