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

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

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 -
  1. DF -dysmorphic features, CA -congenital anomalies, M -male, F -female.
  2. * Additionally high resolution karyotyping.
  3. ** Intrachromosomal duplication.