Table 2

 Submicroscopic deletions and duplications identified by multiplex ligation dependent probe amplification (MLPA)

CaseMLPA resultFISH confirmationParentsClinical features*Score†
*For more details, see results section.
†Subtelomeric clinical checklist score.10
‡Submicroscopic aberration not reported before.
§Inherited from phenotypically similarly affected parents.
FISH, fluorescent in situ hybridisation; MLPA, multiplex ligation dependent probe amplification; MR, mental retardation.
Submicroscopic deletions
1del 1pterYesDe novoModerate MR; facial dysmorphisms; ventricular septal defect; hearing loss6
2del 1pterYesDe novoSevere MR; facial dysmorphisms; vesico-ureteric reflux; urachus cyst3
3del 3qterYesDe novoMild MR; scaphocephaly; facial dysmorphisms; pectus carinatum4
4del 4pterYesDe novoModerate MR; short stature; microcephaly; plagiocephaly; facial dysmorphisms; hydronephrosis; hypospadias4
5del 10qterYesDe novoMild MR; facial dysmorphisms; vesico-ureteric reflux; hearing loss5
6del 2pterNoInheritedModerate MR; behaviour problems; microcephaly; facial dysmorphisms4
7del 11pterNoInheritedModerate MR; brachycephaly; facial dysmorphisms2
8del 12pterNoInheritedSevere MR; hypotonia; microcephaly; holoprosencephaly; corpus callosum dysgenesis4
9del 16qterNoInheritedModerate MR; facial dysmorphisms3
10del 22qterYesNot availableSevere MR ; no clinical information available
Submicroscopic duplications
11dup 5qter‡NoDe novoMild MR; facial dysmorphisms; hearing loss; epilepsy; brachycephaly; hydrocephalus3
12dup 12pter‡NoDe novoModerate MR; short stature; facial dysmorphisms; hypermobility; pectus excavatum6
13dup 18qter‡NoInheritedMild MR; short stature3
14dup 22qterYes, der(21)InheritedModerate MR; short stature; facial dysmorphisms;3
t(21;22)Paternal§Seizures; behaviour disorders; micro- and trigonocephaly