Breanna Beers: A Remarkable Case of ‘Generation Skipping’ Marfan Syndrome
Breanna Beers, Genetic Counselor at Kennedy Krieger Institute, shared a post on LinkedIn about the recent article she and her colleagues co-authored, adding:
“Excited to share the publication of my co-first-author case report, out now in Case Reports in Genetics!
The story started with a puzzle: A three-year-old girl with Marfan syndrome due to a known familial deletion of FBN1 previously identified in her maternal uncle, yet her mother tested negative on chromosomal microarray.
How could that be?
Did the familial deletion recur de novo in our proband? Or was there something else we were missing?
On a hunch, my wonderful colleague at The Johns Hopkins University School of Medicine, Gretchen MacCarrick, ordered targeted FISH, and the results were both surprising and utterly sensible.
You’ll have to read the case report to figure out the answer to this pattern of ‘generation skipping’ Marfan.
Hint: it’s a reminder that complex chromosomal rearrangements can hide behind ‘negative’ results, and that cytogenomic tools remain essential when the clinical picture doesn’t match the molecular one.
Huge thank you to co-authors Hamilton Wexler and Gretchen MacCarrick, and to the family who consented to sharing their story.”
Title: Novel Generation‐Skipping Inheritance Pattern of Marfan Syndrome Due to FBN1 Insertional Translocation: Diagnostic Utility of FISH and Implications for Genetic Counseling
Authors: Breanna Beers, Hamilton Wexler, Gretchen MacCarrick
Read the Full Article on Case Reports on Genetics
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