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.