Work

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

Year: 2020

Type: article

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.

Source: World Journal of Clinical Cases

DOI: 10.12998/wjcc.v8.i21.5296

Authors: Jaime Toral-Lopez, Luz María González Huerta, Olga Messina-Baas, Sergio A Cuevas-Covarrubias

Institution: Hospital General de México

Language: English

Topic: Genomic variations and chromosomal abnormalities

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: diamond

OpenAlex ID: W3097420656

FWCI: 1.318

Cites: 21

Cited by: 12

Related to: 10