The segregation of different submicroscopic imbalances underlying the clinical variability associated with a familial karyotypically balanced translocation.

ABSTRACT:

Background

About 7 % of karyotypically balanced chromosomal rearrangements (BCRs) are associated with congenital anomalies due to gene or regulatory element disruption, and cryptic imbalances on rearranged chromosomes. Rare familial BCRs segregating with clinical features are a powerful source for the identifying of causative genes due to the presence of several affected carriers.

Case presentation

We report on a karyotypically balanced translocation t(2;22)(p13;q12.2) associated with variable learning disabilities, and craniofacial and hand dysmorphisms, detected in six individuals in a three-generation family. Combined a-CGH, FISH and mate-pair sequencing revealed a ten-break complex rearrangement, also involving chromosome 5. As the consequence of the segregation of the d

SUBMITTER: Fonseca AC 

PROVIDER: S-EPMC4696321 | biostudies-literature | 2015

REPOSITORIES: biostudies-literature