Patient reference | Sex | % r(1) | De novo | Ascertainment | Phenotype |
---|---|---|---|---|---|
(1) 1q12 heterochromatin | |||||
Case 1, ref 10 | F | 25 | Y | MCA | ND, del(18)(q22) also present |
Case 17, refs 12 and 13 | M | 90 | ND | Adult patient with CGL | Normal |
Case 1, ref 14 | M | 100 | Y | PND | Normal |
(2) 1q12 heterochromatin and euchromatin | |||||
Patient D, this report | F | 15 | Y | Minor dysmorphism, protruding tongue, heart murmur | Minor dysmorphism, VSD |
Case 1, ref 15 | F | 22 | Y | PND | Normal |
(3) Euchromatin, 1q12 heterochromatin absent | |||||
Patient A, this report | M | 30 | Y | Developmental delay, minor dysmorphism | Intellectual disability, minor dysmorphism |
Patient B, this report | M | 30 | Y | Developmental delay, diarrhoea | Intellectual disability, minor dysmorphism |
Patient C, this report | M | 70 | Y | Language delay, dysmorphic features | Minor dysmorphism, lean build |
Case 1, ref11 | M | 20 | Y | Developmental delay, dysmorphism | Developmental delay, minor |
F: female, M: male, ND: not determined.
PND: prenatal diagnosis, MCA: multiple congenital abnormalities.