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Case Reports
. 2018 Apr 3;12(1):90.
doi: 10.1186/s13256-018-1587-1.

16p11.2 microdeletion syndrome: a case report

D Dell'Edera  1 , C Dilucca  2 , A Allegretti  3 , F Simone  3 , M G Lupo  4 , C Liccese  3 , R Davanzo  2
Affiliations
Case Reports

16p11.2 microdeletion syndrome: a case report

D Dell'Edera et al. J Med Case Rep. .

Abstract

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.

Keywords: 16p11.2 microdeletion syndrome; CGH-array; Developmental delay; Intellectual disability; Submicroscopic chromosomal changes.

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Conflict of interest statement

Ethics approval and consent to participate

Ethical clearance was sought from the Directorate of Research of the Ethical Committee Basilicata Region (Italy).

Consent for publication

Written informed consent was obtained from the patient’s legal guardian(s) for publication of this case report and any accompanying images. A copy of the written consent is available for review by the Editor-in-Chief of this journal.

Competing interests

The authors declare that they have no competing interests.

Publisher’s Note

Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

Figures

Fig. 1
Fig. 1
The 16p11.2 microdeletion is grouped into three groups (explanation in the text)
Fig. 2
Fig. 2
Chromosome 16p11.2 deletion in our patient. The top panel shows the ideogram of chromosome 16 with the 16p11.2 (29592751-30,190,593) deleted region marked in a small red box. The scatter plot of the array-comparative genomic hybridization data, in the central panel, shows a 597.84 kb microdeletion of 16p11.2 in our patient. The University of California, Santa Cruz (GRCh37/hg19 assembly) genes in the overlapping region are shown in the bottom panel
See this image and copyright information in PMC

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