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
DOI: 10.1186/s13256-018-1587-1
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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