16p11.2 microdeletion syndrome: a case report
| Autor: | F Simone, C. Liccese, R. Davanzo, C. Dilucca, Maria Giovanna Lupo, Domenico Dell’Edera, Arianna Allegretti |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2018 |
| Předmět: |
Male
Parents 0301 basic medicine Proband Developmental delay Developmental Disabilities Submicroscopic chromosomal changes Intellectual disability lcsh:Medicine Case Report Chromosome Disorders 030105 genetics & heredity Child In Situ Hybridization In Situ Hybridization Fluorescence media_common Genetics CGH-array Daughter medicine.diagnostic_test General Medicine Microdeletion syndrome Phenotype 16p11.2 microdeletion syndrome Autism spectrum disorder Child Preschool Female Chromosome Deletion Abnormality Human Adult media_common.quotation_subject Chromosomes Fluorescence 03 medical and health sciences Thinness medicine Humans Autistic Disorder Preschool Pair 16 business.industry lcsh:R medicine.disease Etiology business Chromosomes Human Pair 16 Intellectual Disability Fluorescence in situ hybridization |
| Zdroj: | Journal of Medical Case Reports, Vol 12, Iss 1, Pp 1-6 (2018) Journal of Medical Case Reports |
| ISSN: | 1752-1947 |
| Popis: | Background The recurrent ∼ 600 kb 16p11.2 microdeletion is among the most commonly known genetic etiologies of autism spectrum disorder, overweightness, and related neurodevelopmental disorders. Case presentation Our patient is a 2-year-old white girl from the first pregnancy of a non-consanguineous healthy young white couple (father 33-years old and mother 29-years old). Our patient and her parents’ DNA were analyzed by comparative genomic hybridization-array platform. Comparative genomic hybridization-array analysis highlighted a ∼ 600 kb deletion in 16p11.2 region. It has a segregant nature, since it was found in the mother and in her 2-year-old daughter. The microdeletion was confirmed by fluorescence in situ hybridization analysis. Conclusions The presented clinical case is worthy of note since the observed microdeletion is often associated with a clinical phenotype tending to overweightness, but the proband (female) was hospitalized due to poor height and weight development, and anorexia. Moreover, the segregant nature of the observed genomic abnormality has to be noted, as well as the phenotypic variability between the mother and daughter. The case described here enriches the phenotypical spectrum linked to the 16p11.2 microdeletion. For these reasons, in the presence of a suspected genetic pathology it is fundamental to study the proband from the clinical point of view, to extend the clinical observation to the parents, and to provide a good family anamnesis. In this way, it is possible to reveal the presence of a familial genetic pathology whose phenotypical outcomes can be highly variable among the members of a family. |
| Databáze: | OpenAIRE |
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