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Table 2 Established genomic disorders detected

From: Array CGH as a first line diagnostic test in place of karyotyping for postnatal referrals - results from four years’ clinical application for over 8,700 patients

OMIM Syndrome n del (x1) dup (x3) trp (x4)
607872 1p36 2 2 - -
612474/612475 1q21.1 $ 42 20 22 -
600430 2q37 4 4 - -
609425/611936 3q29 8 2 6 -
194190 Wolf-Hirschhorn 2 2 - -
123450 Cri du Chat 3 3 - -
175100 Familial Adenomatous Polyposis 1 1 1 - -
117550 Sotos 2 2 - -
194050/609757 Williams-Beuren 14 6 7 1
183600 Split-Hand/Foot Malformation 1 2 2 - -
610253 Kleefstra 4 4 - -
194072 WAGR 1 1 - -
176270/105830 Prader-Willi/Angelman 19 10 7 2
612001 15q13.3 $ 26 26 - -
613406/613406 15q24 2 2 - -
* 15q26 1 1 - -
141750 ATR-16 2 2 - -
** 16p13.11 $ 45 13 32 -
136570 16p12.1 $ 24 24 - -
613444 Distal 16p11.2 $ 8 8 - -
611913 Proximal 16p11.2 $ 60 35 24 1
247200 Miller-Dieker 9 4 ^ 5 ^ -
118220/162500 Charcot-Marie-Tooth/Neuropathy, Hereditary, With Liability To Pressure Palsies 7 4 3 -
182290/610883 Smith-Magenis/17p11.2 10 8 2 -
613675 17q11.2 4 4 - -
137920 Renal Cysts And Diabetes 10 10 - -
610443/613533 17q21.31 3 2 1 -
115470 Cat-Eye 1 - 1 ^ -
188400/192430/608363 22q11.2 83 64 19 -
611867 Distal 22q11.2 9 2 7 -
606232 Phelan-Mcdermid 8 8 - -
308100 X-linked Ichthyosis 11 11 ^^ - -
312080 Pelizaeus-Merzbacher 1 - - 1
312750/300260 Rett/MECP2 2 - 2 ^^^ -
  1. $ Susceptibility locus / incomplete penetrance.
  2. * Tatton-Brown (2009). 15q overgrowth syndrome: a newly recognized phenotype associated with overgrowth, learning difficulties, characteristic facial appearance, renal anomalies and increased dosage of distal chromosome 15q. Am J Med Genet 149:147.
  3. ** Hanner (2009). Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant. J Med Genet 46:223.
  4. ^ This patient was mosaic.
  5. ^^ all cases were x0 copy nullisomy in males.
  6. ^^^ all cases were x2 copies duplication in males.