Two combined microdeletions in a 1-year-old child: a case report

*Correspondence: [e-mail].

Abstract

Case Presentation: H.B.C., 1-year-old female child who was brought to a pediatric neurology service due to motor delay, and facial dysmorphisms. The child exhibited global hypotonia, delayed motor development, and facial dysmorphisms such as a round face, hypertelorism, blepharospasm, deep-set eyes, long eyelashes, low ear implantation, thin nasal filter, and widened nasal base. Genetic testing revealed two pathogenic deletions in the regions 2q37.3 and 18p11.3211.21, as well as a clinically uncertain duplication in the pseudoautosomal region Xp22.23 or Yp11.32, leading to the diagnosis of a structural chromosomal abnormality.

Discussion: Deletion syndrome 2q37.3 is a rare chromosomal disorder with an estimated prevalence of approximately 150 cases worldwide as of 2020. The clinical manifestations are variable and may include E-type brachydactyly, short stature, mild to moderate intellectual disability, hypotonia, behavioral abnormalities, and dysmorphic facial features such as thin and highly arched eyebrows, prominent forehead, depressed nasal bridge, full cheeks, prominent nasal septum, thin upper lip, and otologic anomalies. This syndrome is also associated with a subtype of autism. Chromosome 18p deletion syndrome is a contiguous gene deletion syndrome resulting from the deletion of all or part of the short arm of chromosome 18, with an estimated incidence of about 1 in 50,000 live-born children. The main clinical manifestations are mild to moderate intellectual disability, growth retardation, hypotonia, craniofacial dysmorphisms including a round face that may become enlarged with growth, dysplastic ears, wide mouth, dental anomalies, and abnormalities of the limbs, genitalia, brain, eyes, and heart. This syndrome is also associated with various movement disorders.

Final Comments: The association of two genetic alterations in the same patient that constitute different syndromes has not been previously reported in the literature. The clinical and phenotypic variability of these syndromes highlights the importance of genomic testing for accurate diagnosis and appropriate management of patients with developmental delay, hypotonia, and dysmorphic features. Genetic counseling and family testing are also crucial for early detection and prevention of potential complications. The importance of early intervention, including intensive global stimulation for better motor and intellectual development, was emphasized for the management of this patient.

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Artikel online veröffentlicht:
12. Mai 2025