De novo double reciprocal translocations in addition to partial monosomy at another chromosome: A very rare case

Gene
Milena SimioniVera Lúcia Gil-da-Silva-Lopes

Abstract

Reciprocal translocations are one of themost common structural rearrangements with a frequency of 1:500 and occur when there is an exchange of distal segments to breakpoints between non-homologous chromosomes. Two or three independent, simple reciprocal or Robertsonian translocations co-exist in the same carrier were classified as complex chromosome rearrangements (CCRs). Structural chromosome rearrangements are considered balanced when there is no apparent gain or loss of chromosome material. In majority of cases, apparently balanced structural chromosome rearrangements (ABCR) are not associated with abnormal phenotypes, although these have been described in 6% of de novo ABCR and 23% of apparently balanced CCR. Here we report a patient with de novo two apparently balanced reciprocal translocations and two partial monosomies, one of these involving an independent chromosome characterized by microarray. Structural rearrangement investigations can improve the knowledge about human genome architecture and correlation of genomic imbalances to abnormal phenotype.

References

Dec 18, 1978·Human Genetics·F PrietoF Asensi
Oct 1, 1988·American Journal of Medical Genetics·K KauschM Schmid
May 1, 1987·Journal of Medical Genetics·N OkadaY Fukuyama
Oct 26, 2001·Journal of the Society for Gynecologic Investigation·C KurzL A Hefler
Jun 1, 2006·Reproduction : the Official Journal of the Society for the Study of Fertility·Aïda PujolJoaquima Navarro
Aug 5, 2008·American Journal of Human Genetics·Vincent CantagrelJoseph G Gleeson
Jun 30, 2009·Trends in Genetics : TIG·Feng ZhangJames R Lupski
Jan 21, 2011·Molecular Autism·John P HussmanMargaret A Pericak-Vance
Apr 14, 2011·Human Reproduction Update·F PellestorP Sarda
Mar 24, 2012·Current Opinion in Genetics & Development·Pengfei LiuJames R Lupski
Apr 21, 2012·Cytogenetic and Genome Research·M HöcknerD Kotzot
Dec 3, 2014·European Journal of Medical Genetics·Florence PetitJoris Andrieux

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Citations

Nov 8, 2016·Genome Génome / Conseil National De Recherches Canada·Tianheng RenZhenglong Ren
Jul 12, 2017·Molecular Syndromology·Milena SimioniVera L Gil-da-Silva-Lopes

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