Table 1

Ascertainment of deletion carriers

Cohorts†Mean age (y)CarriersMFSex ratio p ValueDe novo/inherited (mother:father:unknown)Patients screened
Europe†Probands10.785**56281.49×10−325/28 (17 : 10 : 1)30635**
Carriers siblings13.99630.25NA
Transmitting parents37.4228130.19NA
Simons VIPProbands8.245***26190.1927/7 (2 : 3:2)15749***
Carriers siblings8.74040.62NA
Transmitting parents42.7321NA
LiteratureDD/ID§9.88456281.49×10−338/15 (8 : 7:0)NA
General population‡45.118*8100.41NA58635*
Obesity‡26.5154110.592/3 (3 : 0:0)2579
Carriers TOTAL2851661172.12×10−392/53(30 : 20)107598
  • †Distribution of clinical indications for referral is detailed in the previous publication.2

  • ‡Only anthropometric data were available and previously published.1 ,2

  • §Cases (including 7 relatives) reviewed from the literature.4 ,5 ,7 ,10 ,11 ,13–16 19–23 The copy number variant detection methods used in the literature are: 19K bacterial artificial chromosome (BAC) microarray,4 Affymetrix 500K,5 Affymetrix 5.0,7 44K and 105K Agilent,10 44K and 105K Agilent,11 105K Agilent,14 Affymetrix 500K, Affymetrix 6.0, Illumina HumanHap300 BeadChip, 38K BAC microarray (Swegene), 44K, 105K and 244K Agilent,15 Affymetrix 500K, Affymetrix 6.0, and Illumina 1M,16 BAC microarray,19 Affymetrix 6.0,20 Agilent 105K,21 NimbleGen HD2, Affymetrix 6.0, Affymetrix 500K or ROMA 85K,22 244K Agilent or Affymetrix 6.0.23

  • Data were available on 18/25*, 85/113** and 45/67*** deletion carriers.

  • Due to missing data, there may be differences between the total number of cases and the sum of cases in the various columns. Statistically significant values are in bold.

  • DD/ID, developmental disorders/intellectual disability; NA, non-available or not applicable; Simons VIP, Simons Variation in Individuals Project.