Targeted gene under study:
Four-fold gain of the region 16p11.2 (triplication/tetrasomy 16p11.2)
Abstract
Proximal duplication of 16p11.2 (i.e., three copies of region 16p11.2) is a well-characterized recurrent chromosomal aberration associated with a broad spectrum of especially neurodevelopmental and psychiatric symptoms.
In contrast, a four-fold gain of the region 16p11.2 has to date only been published in five patients from four families. Various terms have been utilized to describe this cytogenetic aberration in the corresponding literature (e.g., triplication or tetrasomy 16p11.2), thereby challenging a straightforward review of the entirety of cases published to date.
We identified a four-fold gain of the region 16p11.2 in a so far unpublished pair of siblings: a 10 year old boy with symptoms including behavioral problems, under-average IQ, secondary microcephaly and rather short and slender stature and his 2 year old sister with developmental delay, microcephaly and slender stature.
With this call, we are looking for additional patients with four-fold gains encompassing the region 16p11.2 for composition of one comprehensive review of phenotypic features encountered in context with this cytogenetic change.
Coordinating team
Dr. med. Theresia Herget – t.herget@uke.de
Dr. med. Amelie van der Ven – a.van-der-ven@uke.de
Institution
Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany
Specific requirements beyond clinical data and genotype data sharing:
1- Re-analysis of DNA samples: No
2- Resampling of patients: No
3- Linked to a translational/basic research project: No