Publications by authors named "Israel Enrique Crisanto-Lopez"
Background: BCL11B variants are associated with intellectual developmental disorder with dysmorphic facies, speech delay, and T-cell abnormalities (IDDSFTA) (OMIN 618092). The clinical features include neurodevelopmental disorders (psychomotor delay, intellectual disability, language delay, autism spectrum features), facial dysmorphisms, immunological manifestations (asthma, allergies and T cells decrease). The aim is to present a IDDSFTA case in Mexican population with a probably pathogenic variant that has not been reported before and to compare it with literature cases.
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- 20q11.2 microdeletion syndrome is an extremely rare genetic disorder affecting fewer than 1 in 1,000,000 individuals, linked to abnormalities in specific genes that result in various physical and neurological symptoms.
- A clinical case study of a 5-year-old girl reveals symptoms like hypotonia, microcephaly, and limb deformities, alongside a confirmed genetic deletion through SNP microarray testing.
- The case expands known symptoms of the syndrome by identifying additional features, emphasizing the need for interdisciplinary care to enhance the patient’s overall health and development.