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Table 2 Non-22q CNV findings in nine individuals with PMS

From: A Brazilian cohort of individuals with Phelan-McDermid syndrome: genotype-phenotype correlation and identification of an atypical case

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
  1. aX-linked recessive inheritance
  2. bAutosomal recessive inheritance
  3. cAutosomal dominant inheritance