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Table 1 Clinical features of patients carrying overlapping 1p21.3 deletions

From: MIR137 is the key gene mediator of the syndromic obesity phenotype of patients with 1p21.3 microdeletions

  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