16p13.11 microduplication with growth retardation and developmental disorders: a case report and literature review

Abstract

Short stature and growth retardation is a common condition in children. Genetic variations are responsible for many cases of short stature of unknown etiology. In particular, pathogenic copy number variants (CNVs) have been found in 10%-16% of children with unexplained short stature. This paper reports on a 5-year-old Japanese girl with both growth retardation and developmental delay associated with a 16p13.11 microduplication. Although the patient's mother also carries this microduplication, she did not show growth retardation and developmental delay. These cases illustrate the diverse phenotypic manifestations of 16p13.11 microduplication. Consequently, we conducted the literature review of 274 cases associated with this duplication revealed neurological disorders in approximately 70% of cases, 15.3% of these cases were associated with short stature. Diagnosis of 16p13.11 microduplication remains challenging due to its diverse symptomatology and elusive genotype-phenotype correlations. Comprehensive genetic evaluation is crucial for patients presenting with short stature and developmental disorders, underscoring the need for further investigation into the 16p13.11 microduplication to clarify its specific role and implications.

Keywords: 16p13.11 microduplication; copy number variants (CNVs); developmental disorders; growth retardation.

Fig. 1

Pedigree and microarray analysis Fig. 1a: Pedigree. The arrow indicates the proband. The proband’s black shading represents being affected with the trait. The mother’s pedigree mark indicates an asymptomatic carrier. The father’s height was 158 cm (–2.33 SD). He had a history of seizures. The mother’s height was 156 cm (–0.39 SD). She had a history of depression. However, the parents did not have short stature below –2.5 SD or neurodevelopmental disorders. Fig. 1b: Microarray analysis. The 1.1 Mb duplication at the 16p13.11 region in the patient and her mother was revealed. The patient’s father did not carry this duplication.