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| The Chromosome 7 Annotation Project |
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| # | Unique ID | Karyotype | Phenotype | Cytogenetic Break From | Cytogenetic Break To | Molecular Breakpoint #1 | Molecular Breakpoint #2 | Pubmed ID | Patient ID | Comments | |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | 21480499_0100 | 4?,XY arr 7p21.3(8,144,214–8,497,4 30)x3 mat,15q24.1(72,536,068–72,5 47,876)x3 mat [hg18] | autism, language problems, developmental delay, sensory problems, hyperactivity, large head circumference, intellectual disability | p21.3 | p21.3 | rs17330124/r s3807843 | rs10486229/r s6959225 | 21480499 | 17122-0100, maternal cousin of 0101 | ~349kb duplication; NXPH1, ICA1 discussed as candidate genes; sibling with autism, maternal uncle has autistic features | Edit |