<unk>  can only be definitively diagnosed by genetic analysis, which can be done prenatally or after birth. Family and medical history is important when diagnosing a child with<unk> . Chromosome testing of both parents can provide more information on whether or not the<unk>  was inherited. Increased nuchal translucency in a first-trimester ultrasound may indicate the presence of<unk><unk> . It is important to follow through with genetic testing because there are many other diseases that have similar clinical manifestations of<unk> . Special imaging tests, enzyme assays, electrocardiogram (EKG), echocardiogram, cardiac catheterization and more can be run on a patient who has<unk>  in order to diagnose their accompanying defects.
13q deletion syndrome
22q13 deletion syndrome
2q37 deletion syndrome
9q34 deletion syndrome
22q11.2 distal deletion syndrome
1q21.1 deletion syndrome
Chromosome 5q deletion syndrome
1p36 deletion syndrome