Case | MLPA resulta | FISH studiesb | Sequencing/qPCR | Inheritance studies | Clinical features |
---|---|---|---|---|---|
13 | del 1pter (P036B, proximal) | - | No sequence changes | - | Developmental delay, dysmorphism |
14 | del 1pter (P036B, proximal) | - | No sequence changes | - | Severe developmental delay, dysmorphism |
15 | del 4qter (P069, distal) | - | Three base changes next to ligation site | - | Severe developmental delay, microcephaly, finger contractures |
16 | del 4qter (P069, distal) | - | No sequence changes | - | Developmental delay, optic nerve hypoplasia |
17 | del 4qter (P069, distal) | - | No sequence changesc | - | Developmental delay, dysmorphism, arthrogryposis |
18 | del 4qter (P069, distal) | - | No sequence changesc | - | - |
19 | dup 6qter (P069, distal) | - | - | - | Cleft palate, micrognathia |
20 | dup 8qter (P036B, proximal) | - | - | Inherited from unaffected parent | Short stature, cardiac lesion, epicanthic folds |
21 | del 9pter (P069, distal) | del 9pter | - | To follow | Learning difficulties, microcephaly, heterochromatic irises, patches of hypopigmented hair, happy disposition |
22 | dup 9pter (P069, distal) | Normal, distal | - | Present in affected sibling, further studies to follow | Developmental delay, mild dysmorphism, speech delay, prominent teeth |
23 | dup 9qter (P069, distal) | Normal, distal | - | De novo, parents unaffected | Moderate learning difficulties, ventral-spetal defect, shaking, umbilical hernia |
24 | dup 13qter (P069, distal) | Normal, distal | - | - | Cleft palate, unilateral micropthalmia, coloboma |
25 | dup 15qter (P069, distal) | Normal, proximal | - | - | Congenital heart disease, cleft palate, short stature, ptosis |
26 | dup 22qter (P069, proximal) | - | - | De novo, parents unaffected | Developmental delay, autoimmune liver disease |
8 | dup 22qter (P036B, distal) | Normal, proximal | - | - | Developmental delay, microcephaly, speech difficulties, seizures |
27 | dup 22qter (P036B, distal) | Normal, proximal | - | De novo, parents unaffected | Developmental delay, hypospadias |