Figure - PMC

Skip to main content

An official website of the United States government

Here's how you know

Here's how you know

Official websites use .gov
A .gov website belongs to an official government organization in the United States.

Secure .gov websites use HTTPS
A lock ( ) or https:// means you've safely connected to the .gov website. Share sensitive information only on official, secure websites.

View full-text article in PMC

. 2017 Jan 25;25(4):416–422. doi: 10.1038/ejhg.2016.195

Search in PMC
Search in PubMed
View in NLM Catalog
Add to search

Copyright © 2017 The Author(s)

This work is licensed under a Creative Commons Attribution 4.0 International License. The images or other third party material in this article are included in the article's Creative Commons license, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons license, users will need to obtain permission from the license holder to reproduce the material. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/

PMC Copyright notice

Family tree of family O. Copy number status of the SMN1 gene is reported for family members affected by/carriers of SMA, as reported by MLPA analysis. This is graphically illustrated by showing the copies of SMN1 gene for both maternal (black) and paternal (grey) alleles on the side. A DNA sample from the previous affected son (black arrow) was used to identify the maternal and paternal haplotypes linked with the mutant alleles. NIPD testing for SMA was carried out on the subsequent pregnancies (P1 and P2).