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

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 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
P275 del 20 probes at 17q21.31 b
M7 3m M + + x 2 x 2 del17q21.31 P371 del 8 probes at 17q21.31
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
  1. DF -dysmorphic features, CA -congenital anomalies, M -male, F –female, LCR –low copy repeat.
  2. a Breakpoint between LCR-A i LCR-D, commonly deleted DiGeorge region.
  3. b Deletion of the CRHR1, IMP5 and MAPT genes.
  4. c Additionally high resolution karyotyping: 46,XY,del15q23q24.1.
  5. d Deletion of the TRPS1, EIF3H and EXT1 genes.
  6. e Deletion of the SNRPN and UBE3A genes.