Nov 02, 2023
Participant was born prematurely at 30 weeks 5 days. She was born with restricted growth (IUGR), finger anomalies including right thumb hypoplasia (seen in mosaic trisomy 4), and a congenital heart defect (moderated VSD). She was noted to have skull abnormalities (metopic craniosynostosis, plagiocephaly). She also has some differences in her facial features (broad forehead, triangular shared faced, coarse features, long eyelashes, thick eyebrows that are straight and slanted downward, short palpebral fissures, low set and prominent ears, pinched nose, long and smooth philtrum, micrognathia). Due to these findings, she was followed by a genetics clinic and had a negative chromosomal microarray on blood. Additionally, whole exome sequencing on blood yielded nondiagnostic results.
She started sitting up between 12-13 months of age. At 14 months of age, she was able to scoot on her stomach, roll both directions, and use a pincer grasp. At the time she was not interested in pulling to stand. Additionally, she did not speak any words but did babble. However, currently she can communicate verbally by using small sentences.
Whole genome sequencing on blood was conducted during the UDN evaluation. It yielded nondiagnostic results. However, karyotype on a skin (fibroblast) sample showed mosaic trisomy of chromosome 4. This genetic change was not detected in the participant’s blood.
Clinicians and researchers have identified the following de novo genetic change to be causing the participant’s symptoms: mosaic trisomy 4.
If this participant sounds like you or someone you know, please contact us!
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