The natural history of trisomy 12p

American Journal of Medical Genetics. Part a
Reeval SegelDiana W Bianchi

Abstract

Trisomy of the short arm of chromosome 12 is a rare chromosomal anomaly, with an estimated incidence of 1/50,000 births. It may present as a pure trisomy (complete or incomplete), as mosaic trisomy, or with other chromosomal abnormalities. Little is known from prior reports about the natural history and life expectancy of these individuals. In this study we describe the long-term outcome and the differences between patients with mosaic trisomy 12p compared to patients with complete trisomy. We present a series of 16 patients with trisomy 12p; 6 of them are older than 10 years. Most patients were born at term with normal or above normal birth weight. Seven were born with congenital anomalies, but no single anomaly was present in more than one individual. A clear and consistent dysmorphic facial pattern was apparent in all of the subjects. Most patients over 7 years old had a seizure disorder. All individuals exhibited developmental delay with speech affected more severely than motor skills. Six patients were described as "being social." Six had severe behavioral problems, and seven had significant sleep disturbances. Facial features of the three adult patients were different than the younger individuals. We show here that the ou...Continue Reading

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Citations

Aug 28, 2013·Proceedings of the National Academy of Sciences of the United States of America·Ian S GoldlustM Katharine Rudd
Feb 8, 2014·European Journal of Medical Genetics·Celine PoirsierMartine Doco-Fenzy
Jun 9, 2012·European Journal of Medical Genetics·Silke PauliIris Bartels
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Jul 18, 2009·Prenatal Diagnosis·Neeta Vora, Diana W Bianchi
Jan 29, 2011·American Journal of Medical Genetics. Part a·Zafer CetinGuven Luleci
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Nov 23, 2016·Journal of Clinical Ultrasound : JCU·Mehmet Serdar KutukMunis Dundar
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Oct 3, 2018·Case Reports in Genetics·Rathika Damodara ShenoyVikram Shetty

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