1. Introduction
Asymmetric cry syndrome (ACS) is a genetic abnormality and is one of the recognized disorder of chromosome 22q11.2 deletion syndrome (22q11.2 DS). It was first described by Cayler (Cayler, 1969) in 1969, hence the name “Cayler cardiofacial syndrome”. A microdeletion of chromosome 22q11.2 is found in most of the patients with conotruncal anomaly face syndrome, Di George’s syndrome and velocardiofacial syndrome. Patients with 22q11.2 deletion syndrome may have several clinical abnormalities and different degrees of organ commitment, which include thymus dysfunction, cardiac diseases, immunodeficiencies, and other clinical problems (Kobrynski & Sullivan, 2007). ACS is a rare syndrome with asymmetric crying faces (ACF) in patients with congenital heart diseases.
The age at presentation of ACS varies according to specific anomalies in the patient. ACS in neonates is a rare condition and 22q11.2 deletions often manifest as clinically significant conotruncal defects, such as subaortic stenosis with malalignment of infundibular septum, truncus arteriosus, and tetralogy of Fallot (Hanneman, Newman, & Chan, 2017).
ACS is a rare disease in China. Previously, no heart murmurs were reported to be associated with the condition, and the facial phenotypical features were so trivial such that the patients were thought to be normal by their parents until a diagnosis was made. Thus, early diagnosis by fluorescence in situ hybridization (FISH) might be more difficult when a case has no evidence of chromosomal deletion of 22q11.2. According to a recent study, 31% of patients with 22q11 deletion syndrome (DS) were not diagnosed till when they are 10 years of age (Friedman, Rienstein, Yeshayahu, Gothelf, & Somech , 2016).
To make an early diagnosis, it is important for clinicians to be aware of this syndrome and to familiarize themselves with related extracardiac manifestations. 22q11.2 DS is traditionally diagnosed with FISH. Array comparative genomic hybridization (aCGH) is considered as one of the alternatives in diagnostic modalities (Bahamat et al., 2018). Application of high-throughput pyrosequencing to comprehensively analyze microdeletions of 22q11.2 DS has not yet been reported in the literature. Earlier studies reported that Cayler Cardio-facial syndrome involves 22q11.2 DS, in which a small part of chromosome 22 was missing. Hence, in this case report, a novel ACS with 22q11.21 and 11p15.4 microdeletions, confirmed by DNA high throughput sequencing analysis is presented.