Multiplex ligation-dependent probe amplification workflow for the detection of submicroscopic chromosomal abnormalities in patients with developmental delay/intellectual disability

Table 2 Overview of the detected abnormalities found in patients with microdeletion

Patient	Age	Gender	DF	CA	P036	P070	P245	Follow-up MLPA
M1	6m	F	+	+	x 2	x 2	del22q11	P250 del 14 probes at 22q11.23 ^a
M2	1y1m	F	+	+	x 2	x 2	del22q11	P250 del 14 probes at 22q11.23 ^a
M3	6y10m	M	+	+	x 2	x 2	del22q11	P250 del 14 probes at 22q11.23 ^a
M4	2y10m	F	+	+	x 2	x 2	del22q11	P250 del 14 probes at 22q11.23 ^a
M5	11m	M	+	+	x 2	x 2	del22q11	P250 del 14 probes at 22q11.23 ^a
M6	15y6m	F	+	+	x 2	x 2	del17q21.31	P371 del 8 probes at 17q21.31
M6	15y6m	F	+	+	x 2	x 2	del17q21.31	P275 del 20 probes at 17q21.31 ^b
M7	3m	M	+	+	x 2	x 2	del17q21.31	P371 del 8 probes at 17q21.31
M7	3m	M	+	+	x 2	x 2	del17q21.31	P275 del 20 probes at 17q21.31 ^b
M8	5y8m	M	+	-	x 2	x 2	del15q24	P371 del 9 probes at 15q24.1 ^c
M9	11y2m	M	+	-	x 2	x 2	del8q24.1	P371 del 10 probes at 8q24.1 ^d
M10	17y2m	F	+	-	del15q11	del15q11	del15q11	P374 del 10 probes at 15q11.2 ^e

DF -dysmorphic features, CA -congenital anomalies, M -male, F –female, LCR –low copy repeat.
^a Breakpoint between LCR-A i LCR-D, commonly deleted DiGeorge region.
^b Deletion of the CRHR1, IMP5 and MAPT genes.
^c Additionally high resolution karyotyping: 46,XY,del15q23q24.1.
^d Deletion of the TRPS1, EIF3H and EXT1 genes.
^e Deletion of the SNRPN and UBE3A genes.

ISSN: 1755-8166