Table 3.

Summary of cases with two subtelomere MLPA probes indicating abnormal copy number.

Case	MLPA result	FISH studiesa	Inheritance studies	Clinical features
1	del 1pter	-	De novo, parents unaffected	Developmental delay, mild dysmorphism
2	dup 1pter	dup 1pter	De novo, parents unaffected	Severe developmental delay, congenital heart defect
3	del 2qter	del 2qter	De novo, parents unaffected	Developmental delay, dysmorphism, IUGR
4	del 3pter	Normal, distal	-	Developmental delay, severe learning difficulties, spastic quadriplegia, epilepsy
5	dup 3pter	Normal, distal	Inherited from affected parent	Congenital heart defect, short stature, clinodactyly
6	dup 5qter	-	Inherited from unaffected parent	Queried Rubinstein-Taybi syndrome
7	del 6qter	-	Inherited from parent (unknown phenotype)	Severe developmental delay, microcephaly, no speech, seizures
8	del 9qter	del 9qter	-	Developmental delay, microcephaly, speech difficulties, seizures
9	dup 15qter	-	Inherited from parent (unknown phenotype), also present in another affected family member	Developmental delay, tall stature, macrocephaly, single kidney
10	dup 16qter	-	-	Developmental delay, cleft palate, hearing loss
11	del 17pter	-	-	Severe developmental delay, microcephaly, no speech, significant learning difficulties, mild dysmorphism, short stature, bilateral optic atrophy
12	dup 19qter	Normal, proximal	Sibling (phenotype unknown) carries same duplication, further inheritance studies to follow	Faltered growth, short stature, microcephaly

^a Result of FISH test and position of FISH probe relative to MLPA probes. No result indicates that no informative FISH probe or sample was available.