Korean J Pediatr.  2016 Jan;59(1):16-23. 10.3345/kjp.2016.59.1.16.

Identification of 1p36 deletion syndrome in patients with facial dysmorphism and developmental delay

Affiliations
  • 1Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Korea. hwyoo@amc.seoul.kr
  • 2Medical Genetics Center, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Korea.

Abstract

PURPOSE
The 1p36 deletion syndrome is a microdeletion syndrome characterized by developmental delays/intellectual disability, craniofacial dysmorphism, and other congenital anomalies. To date, many cases of this syndrome have been reported worldwide. However, cases with this syndrome have not been reported in Korean populations anywhere. This study was performed to report the clinical and molecular characteristics of five Korean patients with the 1p36 deletion syndrome.
METHODS
The clinical characteristics of the 5 patients were reviewed. Karyotyping and multiplex ligation-dependent probe amplification (MLPA) analyses were performed for genetic diagnoses.
RESULTS
All 5 patients had typical dysmorphic features including frontal bossing, flat right parietal bone, low-set ears, straight eyebrows, down-slanting palpebral fissure, hypotelorism, flat nasal roots, midface hypoplasia, pointed chins, small lips, and variable degrees of developmental delay. Each patient had multiple and variable anomalies such as a congenital heart defect including ventricular septal defect, atrial septal defect, and patent duct arteriosus, ventriculomegaly, cryptorchism, or hearing loss. Karyotyping revealed the 1p36 deletion in only 1 patient, although it was confirmed in all 5 patients by MLPA analyses.
CONCLUSION
All the patients had the typical features of 1p36 deletion. These hallmarks can be used to identify other patients with this condition in their early years in order to provide more appropriate care.

Keyword

1p36 deletion syndrome; Developmental disabilities

MeSH Terms

Chin
Cryptorchidism
Developmental Disabilities
Diagnosis
Ear
Eyebrows
Hearing Loss
Heart Defects, Congenital
Heart Septal Defects, Atrial
Heart Septal Defects, Ventricular
Humans
Karyotyping
Lip
Male
Multiplex Polymerase Chain Reaction
Parietal Bone
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