Table 1.
Overview on the number of carriers of upd(6)mat, upd(16)mat, TS14 and upd(20)mat patients from the literature and clinical data on our patients with 14q32 epimutation
| Congenital ID | upd(6)mat | SRS | TS14 | upd(16)mata | upd(20)mat | Patient with 14q32 hypomethylation | |
|---|---|---|---|---|---|---|---|
| Reference | available on request | [24] | [7] | available on request | [9] | ||
| Number of patients | 13 | 20 | 44 | 51 | 72 | 15 | |
| Cases with chromosomal disturbances | 4/9 | 40/44 | 3/12 | ||||
| Cases with normal phenotype | 1 | <10c | |||||
| Major Clinical and Overlapping Findings | |||||||
| IUGR (<P10) | 53.8 % (7/13) | 70 % | 82 % | 87 % | 74 % (53/72) | 100 % | yes |
| PNGR (<P10) | 3bcases | 65 % | 57 % | 79 % | 1 case | 100 % | yes |
| Asymmetry | 1 case | 30 % | 68 % | 4 % | no | ||
| Relative macrocephaly | 1 case | 90 % | 70 % | 56 % | 1 case | no | |
| Relative macrocephaly | 1 case | 1 case | no | ||||
| Hypotonia | 1 case | 45 % (n = 143) [25] | 93 % | 1 case | yes | ||
| Abdominal wall defects | 1 case | rare | 1 case | no | |||
| Glycemic disorder | hypoglycemia: 24 % |
hypoglycemia: 19 %; diabetes type 2 reported in later life |
hypoglycemia, diabetes type 2 reported in later life | hypoglycemia: 1 case |
yes | ||
| Precocious puberty | frequent | frequent | 86 % | too young | |||
| Mental retardation | global delay: 65 % |
global delay: 20 % |
39 % | 1 case | |||
| Speech delay | 50 % | 39 % | yes | ||||
| Motor delay | 2 cases | 50 % (7/14) | 76 % (26/34) | yes | |||
| Behaviour | 20 % | 9 % | |||||
| Feeding difficulties | 1 case | 90 % | 84 % | 43 % | 7 cases | yes | |
| Seizures | 1 case | 1 case | 1 case | ||||
| Excessive Sweating | 75 % | 64 % | |||||
| Scoliosis | 5 % | 9 % | 23 % | 1 case | |||
| Adipostas | reported in later life [26] | yes | |||||
| Dysmorphic/typical facial gestalt | 1 case | triangular face | 6 cases | mild | yes | ||
| Dlinodactyly/finger abnormalities | 45 % | 75 % | 5 cases | yes | |||
| Ear abnormalities | low set posterior | low set posterior | |||||
| Otitis media | 20 % | 14 % | 17.6 % (9/51) | ||||
athe majority of patients was identified prenatally, 13 ended as therapeutic abortions. Data on postnatal development are scarcely available. bamong them a patient with CUL7 mutation – 3 M syndrome; c[23]