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

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

Abstract 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. Ho...

Full description

Bibliographic Details
Main Authors: Magdalena Pasińska, Ewelina Łazarczyk, Katarzyna Jułga, Magdalena Bartnik-Głaska, Beata Nowakowska, Olga Haus
Format: Article
Language:English
Published: BioMed Central 2018-08-01
Series:BMC Medical Genomics
Subjects:
Chromosomal abnormalities
Recurrent miscarriages
Reproductive failure
dup17p13.3 syndrome
Genetic counselling
Online Access:http://link.springer.com/article/10.1186/s12920-018-0384-4

Internet

http://link.springer.com/article/10.1186/s12920-018-0384-4

Similar Items