Multiple occurrence of psychomotor retardation and recurrent miscarriages in a family with a submicroscopic reciprocal translocation t(7;17)(p22;p13.2)

BACKGROUND: Balanced reciprocal chromosomal translocations (RCTs) are the ones of the most common structural aberrations in the population, with an incidence of 1:625. RCT carriers usually do not demonstrate changes in phenotype, except when the translocation results in gene interruption. However, t...

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Detaylı Bibliyografya
Yayımlandı:BMC Med Genomics
Asıl Yazarlar: Pasińska, Magdalena, Łazarczyk, Ewelina, Jułga, Katarzyna, Bartnik-Głaska, Magdalena, Nowakowska, Beata, Haus, Olga
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: BioMed Central 2018
Konular:
Case Report
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC6102823/
https://ncbi.nlm.nih.gov/pubmed/30126420
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12920-018-0384-4
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