Preschool with partial trisomy of chromosome 9. Presentation of a case
Journal: Revista Información Científica (Vol.96, No. 6)Publication Date: 2017-11-01
Authors : Harasay Díaz Estévez Aneya Zucel Matos Jarrosay Arelys Mariño Imbernon Aracelis Rubio Tabío;
Page : 1129-1135
Keywords : trisomy; trisomy chromosome 9p; malformations;
Abstract
The case of a patient of a year and a half of age, with dysmorphic features that presented a partial trisomy of the short arm of chromosome 9 (9p), when the karyo type was performed, was diagnosed at 11 months of age. In addition, delay of the psychomotor development and generalized epilepsy of type spasms. Partial or complete trisomy of chromosome 9 is the fourth most frequent chromosomal disorder, may be associated with several malformations. The most common malformations consist of ocular alterations, separated eyes-hypertelorism, strabismus, microphthalmia and small palpebral fissures, malformations of the hands, feet, heart, genitals, kidney and central nervous system, as well as the existence of important mental retardation.
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