Neonatal Med.  2020 Nov;27(4):207-213. 10.5385/nm.2020.27.4.207.

14q12q13.3 Deletion Diagnosed Using Chromosomal Microarray Analysis in an Infant Showing Seizures, Hypoplasia of the Corpus Callosum, and Developmental Delay

• Kwon JH
• Song YH
• Yoon JM
• Cheon EJ
• Ko KO
• Lim JW
• Kim HJ

• KMID: 2510828
• DOI: http://doi.org/10.5385/nm.2020.27.4.207

Abstract

14q12q13.3 Deletion is a rare microdeletion syndrome associated with neurodevelopmental delay, failure to thrive, seizures, and abnormal brain development. Symptoms vary depending on the sites of gene deletion, and establishing the diagnosis is often difficult, as the condition cannot be detected with routine chromosome analysis. In this report, we present a patient with intrauterine growth retardation, microcephaly, muscle weakness, seizures, and hypoplasia of the corpus callosum who underwent diagnostic tests, including karyotyping in the neonatal period without leading to a specific diagnosis. The patient was confirmed with a serious developmental disorder, and a chromosomal microarray analysis was performed at 8 months of age, revealing a 14q12q13.3 deletion. In this case, the condition was diagnosed in early infancy, in contrast to previously reported cases, and the patient had diverse and severe symptoms. Establishing the diagnosis of 14q12q13.3 deletion syndrome allows better management of patient care and genetic counseling for the parents.

Keyword

Microdeletion 14q12q13.3; Chromosomal microarray; Developmental delay; Failure to thrive; Genetic counseling

Figure

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  Figure 1. Family pedigree. The proband is indicated by an arrow. Abbreviation: DM, diabetes mellitus.

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  Figure 2. Brain magnetic resonance imaging findings. (A) Sagittal T1-weighted image showing hypoplasia of the corpus callosum (white arrow). (B) Coronal T2-weighted image showing the “bat wings” appearance of the lateral ventricles (black arrows).

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  Figure 3. Chromosomal microarray data from the patient showing the chromosome 14q12q13.3 deletion (red inverse triangle).

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  Figure 4. Schematic representation of the 14q12q13.3 overlapping deletions in this patient. The key genes included in the deleted region are marked with a red box.

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