Molecular characterization of inv dup del(8p): Analysis of five cases

American Journal of Medical Genetics

Volumn 128 A, Issue 2, 2004, Pages 133-137

  Shimokawa, Osamu ^a   Kurosawa, Kenji ^b   Ida, Tomoko ^a   Harada, Naoki ^a,c,d   Kondoh, Tatsuro ^c   Miyake, Noriko ^c,d   Yoshiura, Kohichiro ^c,d   Kishino, Tatsuya ^e   Ohta, Tohru ^e   Niikawa, Norio ^c,d   Matsumoto, Naomichi ^c,d  

^a Kyusyu Med Sci Nagasaki Laboratory   (Japan)

^b KANAGAWA CHILDREN'S MEDICAL CENTER   (Japan)

^c NAGASAKI UNIVERSITY GRADUATE SCHOOL OF BIOMEDICAL SCIENCES   (Japan)

^d JAPAN SCIENCE AND TECHNOLOGY AGENCY   (Japan)

^e NAGASAKI UNIVERSITY   (Japan)

Author keywords

8p23 inversion; Inv dup del(8p); Polymorphism

Indexed keywords

ARTICLE; ASIAN; CENTROMERE; CHROMOSOME 8P; CHROMOSOME BREAKAGE; CHROMOSOME DELETION; CHROMOSOME DUPLICATION; CHROMOSOME INVERSION; CLINICAL ARTICLE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE CLUSTER; GENETIC POLYMORPHISM; GENETIC RECOMBINATION; HETEROZYGOTE; HUMAN; JAPANESE POPULATION; MATERNAL CHROMOSOME; MEIOSIS; MEIOTIC RECOMBINATION; MODEL; MOLECULAR GENETICS; MOTHER; OLFACTORY RECEPTOR; PACHYTENE; POPULATION; PRIORITY JOURNAL; SHORT TANDEM REPEAT; SHORT TANDEM REPEAT POLYMORPHISM;

ABNORMALITIES, MULTIPLE; ALLELES; CHROMOSOMES, HUMAN, PAIR 8; DNA; FEMALE; GENE DELETION; GENE DUPLICATION; GENE FREQUENCY; GENOTYPE; HETEROZYGOTE; HOMOZYGOTE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; JAPAN; MALE; MEIOSIS; MENTAL RETARDATION; MODELS, GENETIC; MOTHERS; MULTIGENE FAMILY; POLYMORPHISM, GENETIC; RECOMBINATION, GENETIC;

GENETTA;

EID: 4444327111     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30063     Document Type: Article

References (8)

1. de Die-Smulders CEM, Engelen JJM, Schrander-Stumpel CTRM, Govaerts LCP, de Vries B, Vles JSH, Wagemans A, Schijns-Fleuren S, Gillessen-Kaesbach G, Fryns JP. 1995. Inversion duplication of the short arm of chromosome 8: Clinical data on seven patients and review of the literature. Am J Med Genet 59:369-374.
2. Floridia G, Piantanida M, Minelli A, Dellavecchia C, Bonaglia C, Rossi E, Gimelli G, Croci G, Franchi F, Gilgenkrantz S, Grammatico P, Dalpra L, Wood S, Danesino C, Zuffardi O. 1996. The same molecular mechanism at the maternal meiosis I produces mono- and dicentric 8p duplications. Am J Hum Genet 58:785-796.
3. Giglio S, Broman KW, Matsumoto N, Calvari V, Gimelli G, Neumann T, Ohashi H, Voullaire L, Larizza D, Giorda R, Weber JL, Ledbetter DH, Zuffardi O. 2001. Olfactory receptor-gene clusters, genomic-inversion polymorphisms, and common chromosome rearrangements. Am J Hum Genet 68:874-883.
4. Giglio S, Calvari V, Gregato G, Gimelli G, Camanini S, Giorda R, Ragusa A, Guerneri S, Selicorni A, Stumm M, Tonnies H, Ventura M, Zollino M, Neri G, Barber J, Wieczorek D, Rocchi M, Zuffardi O. 2002. Heterozygous submicroscopic inversions involving olfactory receptor-gene clusters mediate the recurrent t(4;8)(p16;p23) translocation. Am J Hum Genet 71:276-285.
5. Guo WJ, Callif-Daley F, Zapata MC, Miller ME. 1995. Clinical and cytogenetic findings in seven cases of inverted duplication of 8p with evidence of a telomeric deletion using fluorescence in situ hybridization. Am J Med Genet 58:230-236.
6. Knight SJL, Lese CM, Precht KS, Kuc J, Ning Y, Lucas S, Regan R, Brenan M, Nicod A, Lawrie NM, Cardy DLN, Nguyen H, Hudson TJ, Riethman HC, Ledbetter DH, Flint J. 2000. An optimized set of human telomere clones for studying telomere integrity and architecture. Am J Hum Genet 67:320-332.
7. Madan K. 1988. Paracentric inversions and their clinical implications. In: Daniel A, editor. The cytogenetics of mammalian autosomal rearrangements. New York: Alan R. Liss, Inc. pp 249-266.
8. Sugawara H, Harada N, Ida T, Ishida T, Ledbetter DH, Yoshiura K-i, Ohta T, Kishino T, Niikawa N, Matsumoto N. 2003. Complex low copy repeats associated with a common polymorphic inversion at human chromosome 8p23. Genomics 82:238-244.