Korean J Pediatr.  2016 Nov;59(Suppl 1):S14-S18. 10.3345/kjp.2016.59.11.S14.

1p36 deletion syndrome confirmed by fluorescence in situ hybridization and array-comparative genomic hybridization analysis

• Kang DS
• Shin E
• Yu J

• KMID: 2362246
• DOI: http://doi.org/10.3345/kjp.2016.59.11.S14

Abstract

Pediatric epilepsy can be caused by various conditions, including specific syndromes. 1p36 deletion syndrome is reported in 1 in 5,000-10,000 newborns, and its characteristic clinical features include developmental delay, mental retardation, hypotonia, congenital heart defects, seizure, and facial dysmorphism. However, detection of the terminal deletion in chromosome 1p by conventional G-banded karyotyping is difficult. Here we present a case of epilepsy with profound developmental delay and characteristic phenotypes. A 7-year- and 6-month-old boy experienced afebrile generalized seizure at the age of 5 years and 3 months. He had recurrent febrile seizures since 12 months of age and showed severe global developmental delay, remarkable hypotonia, short stature, and dysmorphic features such as microcephaly; small, low-set ears; dark, straight eyebrows; deep-set eyes; flat nasal bridge; midface hypoplasia; and a small, pointed chin. Previous diagnostic work-up, including conventional chromosomal analysis, revealed no definite causes. However, array-comparative genomic hybridization analysis revealed 1p36 deletion syndrome with a 9.15-Mb copy loss of the 1p36.33-1p36.22 region, and fluorescence in situ hybridization analysis (FISH) confirmed this diagnosis. This case highlights the need to consider detailed chromosomal study for patients with delayed development and epilepsy. Furthermore, 1p36 deletion syndrome should be considered for patients presenting seizure and moderate-to-severe developmental delay, particularly if the patient exhibits dysmorphic features, short stature, and hypotonia.

Keyword

Chromosome 1p36 deletion syndrome; Developmental delay; Seizures; Comparative genomic hybridization; Fluorescence in situ hybridization

MeSH Terms

Chin
Comparative Genomic Hybridization
Diagnosis
Ear
Epilepsy
Eyebrows
Fluorescence*
Heart Defects, Congenital
Humans
In Situ Hybridization*
Infant
Infant, Newborn
Intellectual Disability
Karyotyping
Male
Microcephaly
Muscle Hypotonia
Nucleic Acid Hybridization*
Phenotype
Seizures
Seizures, Febrile