Expanding the phenotype of mosaic trisomy 20

American Journal of Medical Genetics. Part a
Mary J H WillisMarilyn C Jones

Abstract

Mosaic trisomy 20 is one of the more common cytogenetic abnormalities found on amniocentesis or chorionic villus sampling. Studies have shown that outcome is normal in 90-93% of prenatally diagnosed cases. There are however, reports in the literature of children with mosaic trisomy 20 described as having an assortment of dysmorphic features and varying levels of developmental delay. Unfortunately, the literature has not defined a specific phenotype for this entity. Here we report on three patients with mosaic trisomy 20, two of whom were identified prenatally. Over a number of years of follow-up it has become apparent that there are some striking similarities among the three. Comparison between our patients and the literature cases indicates a more consistent phenotype than has previously been suggested. Recurring features include; spinal abnormalities (including spinal stenosis, vertebral fusion, and kyphosis), hypotonia, lifelong constipation, sloped shoulders, and significant learning disabilities despite normal intelligence. These findings may be overlooked on routine history and physical exam or assumed to be standard pediatric problems. It is not our intention to suggest that there is a distinctive face for this entity bu...Continue Reading

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Citations

Nov 29, 2011·Clinics in Laboratory Medicine·Colleen Jackson-Cook
Nov 13, 2008·Prenatal Diagnosis·Quinn P SteinWilliam J Watson
Jun 17, 2008·American Journal of Medical Genetics. Part a·Sebastiano BiancaGiuseppe Ettore
Jan 31, 2015·Human Molecular Genetics·Daniel A KingUNKNOWN Deciphering Developmental Disorders Study
Aug 8, 2019·Behavioral Sciences & the Law·Rose MontplaisirWade C Myers
Jul 4, 2020·American Journal of Medical Genetics. Part a·Sietse M AukemaWilhelmina S Kerstjens-Frederikse
May 22, 2019·Genes·Ivan Y IourovSergei I Kutsev

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