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 |