Submicroscopic 11p13 deletion including the elongator acetyltransferase complex subunit 4 gene in a girl with language failure, intellectual disability and congenital malformations: A case report
Jaime Toral‐López, Luz María González-Huerta, Olga Messina‐Baas, Sergio A. Cuevas‐Covarrubias
Abstract
BACKGROUND: We described the main features of an infant diagnosed with facial dysmorphic, language failure, intellectual disability and congenital malformations to strengthen our understanding of the disease. Currently, treatment is only rehabilitation and surgery for cleft lip and palate. CASE SUMMARY: ) and a loss of heterozygosity in Xq25-q26.3 were detected. CONCLUSION: gene as cleft palate, facial dysmorphism, and changes at level brain could be associated to this gene or be part of the effect of the recessives genes involved in the loss of heterozygosity region of Xq25-26.3.
Topics & Concepts
MedicineProbandIntellectual disabilityMicrocephalyGlobal developmental delayCompound heterozygosityLoss of heterozygosityPediatricsGeneticsPathologyGenePsychiatryBiologyMutationAllelePhenotypeGenomic variations and chromosomal abnormalitiesCongenital Ear and Nasal AnomaliesCongenital heart defects research