Introduction
2q37 deletion syndrome is a chromosomal condition in which the patient
has lost a small portion of genetic material. The deletion of the 2q37
gene can result in chromosomal breaks in three different bands: 2q37.1,
2q37.2, and 2q37.3. The 2q37 region in the long q arm of chromosome 2 is
divided into three cytogenic areas with a subsequent 179 genes inside
them. However, only 11 genes are related to the 2q37 deletion syndrome.
The lost material is variable and found in one of the patient’s 2
chromosome 2s [1]. The majority of patients with the 2q37
microdeletion syndrome are isolated cases with normal parenteral
phenotype-karyotype [2]. The patient’s development is affected, but
how the patient is affected, or the affection rate varies widely and
even differs for people who lost the same DNA. The usual characteristics
found in babies include low muscle tone and feeding difficulties. Later,
the patient suffers from developmental delay, learning disabilities,
changes in appearance, and low muscle tone. Asthma and ear and chest
infections are common. Seizures occur in some patients. Patients mostly
presented with brachycephaly, obesity, hypotonia, failure to thrive,
seizures, digit abnormalities, and autism. Facial dysmorphia differs
from one to another; any of these features may be present (prominent
forehead, sparse, flared medial eyebrows, depressed nasal bridge,
V-shaped nasal tip, high-arched palate, alopecia totalis, boxy skull
with prominent forehead, up-slanting palpebrae [3-4]. The 2q37
deletion syndrome can also cause gastrointestinal anomalies, such as
pyloric stenosis [5], and central nervous system (CNS) anomalies,
such as holoprosencephaly [6]. In this case, the cardiological
malformation associated with the 2q37 deletions is apparent. Nearly 20%
of patients have cardiac anomalies such as ventricular septal defects
and aortic coarctation [7]. Following an exhausting (English)
literature search, this is the first case with 2q37 deletion syndrome
presented with cardiac anomalies being reported.