BACs-on-Beads Technology: A Reliable Test for Rapid Detection of Aneuploidies and Microdeletions in Prenatal Diagnosis

Table 1

Description of the aneuploidies and microdeletion syndromes included in the Prenatal BoBS kit.

Syndrome	Frequency of occurrence	Lifespan	Mental retardation	Severe medical symptoms
Down syndrome (21)	1/750–800	50 years	Mild to moderate	−/+
Patau syndrome (13)	1/6,000	4 days	Severe	++
Edwards syndrome (18)	1/10,000	2.5 days	Severe	++
Triple X syndrome (XXX)	1/1,000	Normal	No	−
Klinefelter syndrome (XXY)	1/500–1,000	Normal	No	−
XYY syndrome (XYY)	1/1,000	Normal	No	−
Turner syndrome (X0)	1/2,500	Slightly reduced	Mild to moderate	−/+
Wolf-Hirschhorn (4p16, 3)	1/50,000	Limited	Moderate to severe	+
Cry du Chat (5p15, 3-p15, 2)	1/15,000–50,000	Normal	Moderate to severe	−/+
Williams-Beuren (7q11, 2)	1/7,500–20,000	Reduced	Mild to moderate	−/+
Langer-Giedion (8q23-q24)	unknown	Normal	Mild to severe	−/+
Prader-Willi (15q11-q12)	1/10,000–30,000	Normal	Mild	−/+
Angelman (15q11-q12)	1/12,000–25,000	Normal	Severe	−/+
Miller-Dieker (17p13, 3)	1/100,000–300,000	Reduced	Profound	−/+
Smith-Magenis (17p11, 2)	1/25,000–50,000	No data	Mild to moderate	−/+
DiGeorge (10p14)	1/4,000–5,000	Reduced	Mild to moderate	+
DiGeorge (22q11, 2)	1/2,000–4,000	Reduced	Mild to moderate	+

The severity and type of the symptoms are represented from − (in cases where symptoms range from none to mild) to ++ (for those ranging from moderate to severe). The information in this table was adapted from the following resources: http://www.orpha.net, http://www.nlm.nih.gov, and http://www.rarechromo.org.