Literature DB >> 9660064

Jumping translocation with partial duplications and triplications of chromosomes 7 and 15.

T Jewett1, D Marnane, W Stewart, R Hayworth-Hodge, L Finklea, K Klinepeter, P N Rao, M J Pettenati.   

Abstract

We report a 2-year-old female with seizures, mild dysmorphic features and a jumping translocation involving chromosome 15 that results in multiple cell lines with partial duplications and triplications of chromosomes 7 and 15. Fluorescent in situ hybridization (FISH) and chromosome microdissection were used to identify the complex nature of the jumping translocation. Interstitial telomeres were observed at the jumping translocation sites. The jumping chromosome rearrangement was also found to have a partial duplication of 7p as demonstrated by chromosome microdissection. Despite these partial duplications and triplications of chromosomes 7 and 15, the child does not have major birth defects. She does have mild sensorimotor delays. A review of non-Robertsonian jumping translocations is provided.

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Year:  1998        PMID: 9660064     DOI: 10.1111/j.1399-0004.1998.tb02757.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN: 0009-9163            Impact factor:   4.438


  5 in total

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Authors:  Gopalrao V N Velagaleti; Judy C Hawkins; Neli I Panova; Lillian H Lockhart
Journal:  Indian J Pediatr       Date:  2008-09       Impact factor: 1.967

2.  Additional complexity on human chromosome 15q: identification of a set of newly recognized duplicons (LCR15) on 15q11-q13, 15q24, and 15q26.

Authors:  M A Pujana; M Nadal; M Gratacòs; B Peral; K Csiszar; R González-Sarmiento; L Sumoy; X Estivill
Journal:  Genome Res       Date:  2001-01       Impact factor: 9.043

3.  Insertion of a telomere repeat sequence into a mammalian gene causes chromosome instability.

Authors:  A E Kilburn; M J Shea; R G Sargent; J H Wilson
Journal:  Mol Cell Biol       Date:  2001-01       Impact factor: 4.272

4.  Chromosomal instability in first trimester miscarriage: a common cause of pregnancy loss?

Authors:  Philip John Hardy; Kathy Hardy
Journal:  Transl Pediatr       Date:  2018-07

5.  Isochromosome Yp and jumping translocation of Yq resulting in five cell lines in an infertile male: a case report and review of the literature.

Authors:  Morteza Hemmat; Omid Hemmat; Fatih Z Boyar
Journal:  Mol Cytogenet       Date:  2013-09-10       Impact factor: 2.009

  5 in total

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