Outcomes of two different unbalanced segregations from a maternal t(4;10)(q33;p15.1) translocation.

ABSTRACT:

Background

Unbalanced translocations can cause developmental delay (DD), intellectual disability (ID), growth problems, dysmorphic features, and congenital anomalies. They may arise de novo or may be inherited from a parent carrying a balanced rearrangement. It is estimated that 1/500 people is a balanced translocation carrier. The outcomes of different chromosomal rearrangements have the potential to reveal the functional consequences of partial trisomy or partial monosomy and can help guide genetic counseling for balanced carriers, and other young patients diagnosed with similar imbalances.

Methods

We performed clinical phenotyping and cytogenetic analyses of two siblings with a history of developmental delay (DD), intellectual disability (ID) and dysmorphic features.

R

SUBMITTER: Fan J 

PROVIDER: S-EPMC10061865 | biostudies-literature | 2023 Mar

REPOSITORIES: biostudies-literature