Your browser doesn't support javascript.
loading
Show: 20 | 50 | 100
Results 1 - 2 de 2
Filter
1.
Rev. Hosp. Ital. B. Aires (2004) ; 43(3): 143-146, sept. 2023. ilus, tab
Article in Spanish | LILACS, UNISALUD, BINACIS | ID: biblio-1517927

ABSTRACT

Se presenta un niño de 6 años con antecedente de retraso del lenguaje que llevó a sus padres a realizar múltiples consultas. En un primer momento, su cuadro fue interpretado como parte de un retraso global del desarrollo. Posteriormente, el paciente presentó convulsiones y episodios de descompensación metabólica, comenzando desde entonces su seguimiento por los Servicios de neurología, genética y metabolismo. Finalmente, tras varios estudios complementarios, por medio de un exoma trío se arribó al diagnóstico de síndrome de microduplicación del cromosoma 7q11.23, lo que justifica tanto el retraso global de desarrollo del paciente como su clínica neurológica. (AU)


A six-year-old boy presents with a history of language delay that led his parents to make multiple consultations. At first, we interpreted his condition as part of a global developmental delay. Subsequently, the patient presented seizures and episodes of metabolic decompensation, and since then, he had to be followed up by neurology, genetics, and metabolism services. Finally, after several complementary studies, following a trio exome analysis, we diagnosed chromosome 7q11.23 microduplication syndrome, which explains his global developmental delay and neurological symptoms. (AU)


Subject(s)
Humans , Male , Child , Chromosomes, Human, Pair 7/genetics , Developmental Disabilities/genetics , Williams Syndrome/genetics , Chromosome Duplication , Language Development Disorders/genetics , Intellectual Disability/genetics , Developmental Disabilities/diagnosis , Developmental Disabilities/metabolism , Genetic Testing , Williams Syndrome/diagnosis , Williams Syndrome/metabolism , Language Development Disorders/diagnosis , Intellectual Disability/diagnosis , Intellectual Disability/metabolism
SELECTION OF CITATIONS
SEARCH DETAIL