Díaz EH, Matos JAZ, Mariño IA, Rubio TA

Language: Spanish
References: 0
Page: 1129-1136
PDF size: 193.09 Kb.

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.