Sheffield Diagnostic Genetics Service

15q11.2 Angelman Microdeletion Syndrome

15q11.2 Prader-Willi microdeletion/ microduplication syndrome

16p13.3 Rubenstein-Taybi microdeletion syndrome

17p11.2 Potocki-Lupski microduplication syndrome

17p11.2 Smith-Magenis microdeletion syndrome

17p13.3 Miller-Dieker microdeletion syndrome

17q11.2 NF1 (Von Recklinghausen) microdeletion syndrome

17q21.31 Microdeletion Syndrome

1p36.33 Microdeletion Syndrome

22q11.2 DiGeorge/VCFS Microdeletion or Microduplication Syndrome

22q13.3 Phelan-McDermid Microdeletion Syndrome

2q37.3 Brachydactyly-mental retardation microdeletion syndrome

4p16.3 Wolf-Hirschhorn microdeletion syndrome WHSC1

5p15.3 Isolated Cat Cry microdeletion syndrome (ICS)

5q35 Sotos microdeletion Syndrome NSD1

7q11.23 microduplication syndrome

7q11.23 Williams microdeletion syndrome ELN

8q12.1-12.2 CHARGE microdeletion syndrome

8q23.3-8q24.1 Langer-Giedion microdeletion syndrome

9q34.3 Kleefstra microdeletion syndrome

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