Diagnoses can occur at any age. Most of time chromosome<unk>  deletion syndrome is diagnosed after birth by the detection of symptoms via clinical evaluation. Common methods used to detect<unk>  after birth include the use of a stethoscope, X-ray, and EKG.<unk>  is also diagnosed before birth by ultrasound, amniocentesis, and chorionic villus sampling (CVS). Ultrasound can hint at the malformations of the face, limbs, and heart. While amniocentesis and CVS both use fluid and tissue to perform chromosomal studies to identify chromosomal abnormalities. Finally, karyotyping, a procedure used to examine a patient's chromosomes, can be used to diagnose<unk>  both before birth and after birth.
Monosomy 9p
Tetrasomy 9p
Tetrasomy 18p
Distal trisomy 10q
2q37 monosomy
Partial monosomy 13q
Small supernumerary marker chromosome
Xp11.2 duplication