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

Table 1 Overview of the detected abnormalities found in patients with subtelomeric MLPA

Patient	Age	Gender	DF	CA	P036	P070	Follow-up MLPA	Karyotype	Deletion size (Mb)
T1	2y	F	+	+	del4p	del4p	P096	46,XX,del4p16.3 *	4,5
T2	2y1m	F	+	+	del15q	x 2	P291	46,XX.mlpa 15q26.3(P291)x1	3 – 4
T3	3y	F	+	+	del22q	del22q	P188	46,XX.mlpa 22q13.3(P188)x1	1 – 4,6
T4	4y2m	M	+	-	dup9p	x 2	P230	46,XY.mlpa 9p24.3(P230)x3	0,45 – 1,7 **
T5	3y11m	F	+	-	dupX/Yp	dupX/Yp	P018	46,XX.mlpa Xp22.32(P018)x3 mat	0,86 **
T6	1y4m	M	+	-	dupX/Yp	dupX/Yp	P018	46,XY.mlpa Xp22.32(P018)x3 mat	0,86 **
T7	2y4m	M	+	-	dupX/Yp	dupX/Yp	P018	46,XY.mlpa Yp11.32(P018)x3 pat	0,7
T8	11y9m	F	+	+	dup3p/del8q	dup3p/del8q	P208 P320	46,XX,der(18)t(3;18)(p26.1;q22.1)mat*	dup3p~6 del18q ~12,5
T9	2y4m	M	+	+	dup8p/del18q	dup8p/del18q	P208 P320	46,XY,der(18)t(8;18)(p23.1;q22.1)pat*	dup8p~10 del18q ~13,8
T10	7y11m	F	+	+	del12p/dup22q	del12p/dup22q	P230 P188	46,XX.mlpa 12p13.3(P230)x1,22q13.3(P188)x3	del12p 4,2–6,1 dup22q 4,6–6
T11	13y4m	F	+	+	del19p	del19p	P249	46,XX.mlpa 19p13.3(P249)x1,19p13.3(P249)x3	del ≤0,5 dup ≥2,7
T12	5y10m	M	-	-	del4q	x2	P264	46,XY	-

ISSN: 1755-8166