Feb 25, 2019
26 weeks into the pregnancy, the participant was found to have intrauterine growth restriction (IUGR). She was born early at 34 weeks weighing 3 pounds and was fed through a G-tube as an infant. As she has grown up, she continues to be very small for her age and gaining weight is difficult.
She also has low muscle tone (hypotonia), absence seizures, developmental delays, and some of her bones are shorter than expected (proximal phalanges of fourth and fifth finger, right tibia, toe).
She underwent a skin biopsy of areas of her skin that are lighter and darker (hypo and hyperpigmented skin lesions on right leg), which showed that some cells have an extra copy of chromosomes (triploidy mosaicism).
Clinicians and researchers have identified the following genetic change to be causing the participant’s symptoms: triploidy mosaicism, also referred to as diploid/triploid mosaicism or diploid/triploid mixoploidy.
Of 20 cells examined from hypopigmented skin, 7 out of 20 were triploid (69,XXX) and 13 out of 20 were normal (46,XX). Of 20 cells examined from hyperpigmented skin, 12 out of 20 were triploid (69,XXX) and 8 out of 20 were normal (46,XX).
If this participant sounds like you or someone you know, please contact us!
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