Table 2

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

Case	MLPA result	FISH confirmation	Parents	Clinical 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
1	del 1pter	Yes	De novo	Moderate MR; facial dysmorphisms; ventricular septal defect; hearing loss	6
2	del 1pter	Yes	De novo	Severe MR; facial dysmorphisms; vesico-ureteric reflux; urachus cyst	3
3	del 3qter	Yes	De novo	Mild MR; scaphocephaly; facial dysmorphisms; pectus carinatum	4
4	del 4pter	Yes	De novo	Moderate MR; short stature; microcephaly; plagiocephaly; facial dysmorphisms; hydronephrosis; hypospadias	4
5	del 10qter	Yes	De novo	Mild MR; facial dysmorphisms; vesico-ureteric reflux; hearing loss	5
6	del 2pter	No	Inherited	Moderate MR; behaviour problems; microcephaly; facial dysmorphisms	4
			Paternal
7	del 11pter	No	Inherited	Moderate MR; brachycephaly; facial dysmorphisms	2
			Maternal
8	del 12pter	No	Inherited	Severe MR; hypotonia; microcephaly; holoprosencephaly; corpus callosum dysgenesis	4
			Paternal
9	del 16qter	No	Inherited	Moderate MR; facial dysmorphisms	3
			Paternal
10	del 22qter	Yes	Not available	Severe MR ; no clinical information available

Submicroscopic duplications
11	dup 5qter‡	No	De novo	Mild MR; facial dysmorphisms; hearing loss; epilepsy; brachycephaly; hydrocephalus	3
12	dup 12pter‡	No	De novo	Moderate MR; short stature; facial dysmorphisms; hypermobility; pectus excavatum	6
13	dup 18qter‡	No	Inherited	Mild MR; short stature	3
			Maternal§
14	dup 22qter	Yes, der(21)	Inherited	Moderate MR; short stature; facial dysmorphisms;	3
		t(21;22)	Paternal§	Seizures; behaviour disorders; micro- and trigonocephaly