Table 1 Clinical features of patients carrying overlapping 1p21.3 deletions
Carter pt 1 | Carter pt 2, pt 3 | Willemsen pt 1, pt2, pt 3 | Willemsen pt 4 | Willemsen pt 5 | D’Angelo pt 1 | D’Angelo pt 2 | Pinto pt 8658_201 | Our case | |
|---|---|---|---|---|---|---|---|---|---|
Chromosome Position on chr 1 (hg19) | 97,559,579–98,652,079 | 96,969,562–98,471,225 | 97,727,412–99,477,412 | 97,547,412–98,957,412 | 96,497,412–98,947,412 | 93,919,217–99,846,176 | 95,696,444–107,755,879 | 98,403,034–101,151,364 | 98,456,293–103,682,084 |
Age | 13 years 9 months | 7 years, 5 years | 42 years, 38 years, NA | 33 years | 18 years | 15 years | 8 years 8 months | NA | 10 years |
Gender | M | M, F | M, M, F | M | F | F | F | F | |
Intellectual disability | Severe language delay | Severe language delay | Borderline, Mild-moderate | Mild | Moderate | Language delay | Severe language delay | Severe language delay | Mild |
Autism spectrum disorder | + | + | + | + | + | NA | + | + | + |
Weight | NA | > > 97th centile 50th centile, | 90th, >98th centile | 98th centile | >98th centile | >95th centile | >95th centile | Overweight | Overweight |
Dysmorphic features | NA | + | + | + | + | + | - | NA | - |
Ocular problems | NA | NA | Myopia, astigmatism | Myopia, astigmatism | / | Myopia | / | NA | Hypermetropy |
Precocious puberty | NA | NA | - | - | - | - | + | NA | + |
Others | / | Small joint hypermobility, macrocephaly | / | / | / | / | / | High pain intolerance | Bicuspic aortic valve |