Table 2.
Non-22q CNV findings in nine individuals with PMS
| ID | Additional genomic findings (hg19[GRCh37]) | Size | Position | Genes | OMIM disease association |
|---|---|---|---|---|---|
| P4 | Yq11.21q11.23 (13872502-28644194)×0 | 14.8 Mb | Interstitial | 32 protein-coding genes (USP9Y) | Spermatogenic failure, Y-linked, 2 SPGFY2 and Chromosome Yq11 interstitial deletion syndrome |
| 12q24.23q24.33 (118841028-133773528)×3 (mosaic) | 14.9 Mb | Terminal | 103 protein-coding genes (18 morbid) | Many | |
| P12 | Xq28(148685454-148716519)×3 | 31 kb | Interstitial | TMEM185A | No OMIM disease association |
| P20 | 18p11.32 (64847-464868)×3 | 400 kb | Terminal | USP14, THOC1, COLEC12 | No OMIM disease association |
| Xq28(148094899-148607966)×3 | 513 kb | Interstitial | IDS | Mucopolysaccharidosis II (XLRa) | |
| P21 | 22q13.31 (44257185-45143609)×3 (mosaic) | 886 kb | Interstitial | 8 protein-coding genes (none morbid) | No OMIM disease association |
| Xp22.33 (7514750-8135644)×3 | 620.9 kb | Interstitial | VCX, PNPLA4, MIR651 | No OMIM disease association | |
| P28 | 15q21.3 (58801559-58861468)×1 | 59.9 kb | Interstitial | LIPC | Hepatic lipase deficiency (ARb), [High density lipoprotein cholesterol level QTL 12], {Diabetes mellitus, non-insulin-dependent} (ADc) |
| P31 | 11p14.3 (23032300-24843680)×3 | 1.8 Mb | Interstitial | LUZP2, MIR8054 | No OMIM disease association |
| 16p13.3 (85880-3998442)×3 | 3.9 Mb | Terminal | 158 protein-coding genes (28 morbid) | Chromosome 16p13.3 duplication syndrome |
aX-linked recessive inheritance
bAutosomal recessive inheritance
cAutosomal dominant inheritance