Patient | Gender | Ascertainment method | Rearrangement | Del 22q13, array coordinates (hg19) | Del 22q13 size | Validation | Inheritance | Additional genomic findings |
---|---|---|---|---|---|---|---|---|
SH1 | Male | Karyotype, FISH | Ring 22 | 48927548-51224208 | 2,296,661 | MLPA | Mother negative | None |
SH2 | Male | Karyotype, aCGH | Ring 22 | 48444959-51224208 | 2,779,250 | MLPA | De novo | None |
SH3 | Male | Karyotype, SNP array | Ring 22 | 49114430-51224208 | 2,109,779 | MLPA | De novo | None |
SH4 | Female | aCGH | Terminal deletion | 44321641-51224208 | 6,902,568 | MLPA | De novo | None |
SH5 | Male | aCGH | Terminal deletion | 46143471-51224208 | 5,080,738 | MLPA | De novo | None |
SH6 | Female | aCGH, FISH | Terminal deletion | 44427703-51224208 | 6,796,506 | MLPA | De novo | None |
SH7 | Female | Karyotype, FISH | Ring 22 | 46905533-51224208 | 4,318,676 | MLPA | Mother negative | None |
SH8 | Female | aCGH, and FISH | Terminal deletion | 49574124-51224208 | 1,650,085 | MLPA | De novo | None |
SH9 | Female | aCGH, FISH | Terminal deletion | 49028732-51224208 | 2,195,477 | MLPA | De novo | None |
SH10 | Male | SNP microarray | Terminal deletion | 51122946-51224208 | 101,263 | MLPA | De novo | None |
SH11 | Female | aCGH, FISH | Terminal deletion | 49028732-51224208 | 2,195,477 | MLPA | De novo | None |
SH12 | Male | aCGH | Terminal deletion | 42773732-51224208 | 8,450,477 | MLPA | De novo | None |
SH13 | Female | Karyotype | Terminal deletion | 43745129-51224208 | 7,479,080 | MLPA | De novo | None |
SH14 | Female | aCGH, FISH | Unbalanced translocation | 50267252-51224208 | 956,957 | MLPA | De novo | None |
SH15 | Female | SNP microarray | Terminal deletion | 45902119-51224208 | 5,322,090 | MLPA | De novo | None |
SH16 | Female | CMA, FISH | Terminal deletion | 42918711-51224208 | 8,305,498 | MLPA | Father negative | None |
SH17 | Female | SNP microarray | Terminal deletion | 45583935-51224208 | 5,640,274 | MLPA | De novo | None |
SH18 | Female | aCGH, FISH | Terminal deletion | 50077362-51224208 | 1,146,847 | MLPA | De novo | None |
SH19 | Male | FISH | Interstitial deletion | 48551989-51206201 | 2,654,212 | MLPA | Father negative | None |
SH20 | Male | aCGH | Terminal deletion | 51083118-51224208 | 141,091 | MLPA | De novo | None |
SH21 | Male | aCGH | Terminal deletion | 45428606-51224208 | 5,795,603 | MLPA | De novo | None |
SH22 | Male | FISH | Terminal deletion | 44800014-51224208 | 6,424,195 | MLPA | De novo | None |
SH23 | Male | Karyotype, FISH | Unbalanced translocation | 44023173-51224208 | 7,201,036 | MLPA | De novo | None |
SH24 | Male | Karyotype, aCGH | Ring 22 | 43218614-51224208 | 8,005,595 | MLPA | De novo | None |
SH25 | Male | aCGH, FISH | Terminal deletion | 46787434-51224208 | 4,436,775 | MLPA | De novo | None |
SH26 | Male | Karyotype, FISH | Ring 22 | 49460840-51224208 | 1,763,369 | MLPA | De novo deletion; maternal balanced translocation, 46,XX, t(1;6)(p13.3;q22,2) | None |
SH27a | Male | SNP microarray | Terminal deletion | 51115526-51234443 | 118,917 | no DNA, validated in a clinical lab | De novo deletion; maternal balanced translocation, 46,XX, t(11;22)(q23;q11.2) | None |
SH28 | Female | aCGH, FISH | Terminal deletion | 45705241-51224208 | 5,518,968 | MLPA | De novo | None |
SH29 | Male | Sequencing | SHANK3 frameshift mutation (c.2497delG) | No 22q13 deletion detected | Â | Sanger sequencing | De novo | None |
SH30 | Female | FISH | Terminal deletion | 49004395-51224208 | 2,219,814 | MLPA | Father negative | None |
SH31 | Male | aCGH | Terminal deletion | 42822943-51224208 | 8,401,266 | MLPA | Mother negative | None |
SH32 | Male | Sequencing | SHANK3 nonsense mutation (c.1527G>A) | No 22q13 deletion detected |  | Sanger sequencing | De novo | De novo 17q12 microduplication (chr17:34815184–36249059)b |