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Table 2 Numbers of the most common genomic syndromes detected among 5369 New Zealand patientsa

From: Microarray testing in clinical diagnosis: an analysis of 5,300 New Zealand patients

OMIM # Syndrome Number del x1 dup x3 trp x4
612474/612475 1q21.1c 31 9 22 -
612530 1q41q42 3 3 - -
612313 2q32 2 2 - -
609425 3q29 4 4 - -
194190 4p16.3 3 1 2 -
149730 LADD syndrome 2 2 - -
123450 Cri du Chat 1 1 - -
117550 Sotos 1 1 - -
194050/609757 7q11.23 16 12 4 -
613729 Distal 7q11.23 4 4 - -
610253 Kleefstra 2 2 - -
194072 WAGR (WT1) 1 1 - -
601803 Pallister-Killian 1 - - 1
615656 15q11.2c 37 21 16 -
105830/176270 AS/PWS 10 10 - -
612001 15q13.3c 17 17 - -
611913/614671 16p11.2c 29 21 7 1
613444 16p11.2c 5 5 - -
613604 16p12.2-p11.2c 1 1 - -
Hanner (2009) [22] 16p13.11c 13 6 7 -
614527/614526 17q12 (HNF1β) 12 5 7 -
610883 Potocki-Lupski 7 - 7 -
182290 SMS 1 1 - -
118220/162500 CMT/NHPP 6 5 1 -
247200/613215 17p13.3 5 3 1 1
610443/613533 17q21.31 5 3 2 -
613675 NF1 3 3 - -
115470 Cat eye syndrome 1 - 1 -
188400/192430 DGS/VCFS 13 13 - -
606232 Phelan McDermid 8 8 - -
312865/400020 SHOX b 3 3 - -
300260 MECP2 2 - 2 -
310200 DMD 2 2 - -
  1. a The table uses the format reported by Ahn et al. [3]
  2. b includes enhancer deletion of the SHOX gene
  3. c susceptibility loci/low penetrance