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Table 2 Genomic deletions and duplications detected in 19 patients with Poland syndrome

From: Assessment of copy number variations in 120 patients with Poland syndrome

Patients ID Gender Chr. band Coordinates Hg19 Size (Mbp) CNV Possible candidate genesa Inh Pectoralis muscle phenotype (L/R)/Additional anomalies (L/R) Previous reports
2 F 5p15.2 chr5:13266637-14011580 0.74 Dup DNAH5, TRIO Mat hypoplasia (L)/upper limb hypoplasia (L) -
3 M 5p14.3 chr5:22187485-22740287 0.55 Dup CDH12 de novo hypoplasia (R)/hand hypoplasia (R) -
4b F 5p14.1-p13.3 chr5:27656463-29650802 1.99 Del CDH6, CDH9 Mat hypoplasia (R) -
5 M 6q21-q22.1 chr6:111777947-116488007 4.71 Del REV3L, FYN, WISP3, LAMA4, MARCKS, FRK, COL10A1 Nd hypoplasia (R)/scoliosis/pectus excavatum/intellectual disability (22)
6 F 7q11.22 chr7:70182803-70223737 0.04 Del - de novo agenesis (L)/brachysyndactyly (L)/ASD, pectus excavatum -
7 F 9p24.2-p24.1 chr9:4152060-4627624 0.48 Dup GLIS3 Mat agenesis (L)/upper limb hypoplasia (L) -
9 F 11q12.3 chr11:63185662-63342369 0.16 Del HRASLS5, RARRES3, HRASLS2, PLA2G16 de novo hypoplasia (R)/hand hypoplaisa, vertebral defects (8)
10 M 11p14.1 chr11:28131098-28349712 0.22 Del KIF18A Mat hypoplasia (R) -
11 F 12q21.31-q21.32 chr12:86018191-87432656 1.41 Dup NTS Pat hypoplasia (R)/brachydactyly -
12 M 13q12.11-q12.12 chr13:22840054-24890143 2.05 Del SGCG, SACS, SPATA13 Mat agenesis (R)/brachysyndactyly (R), pectus excavatum -
14 F 16p13.11-p12.3 chr16:15256686-18546759 3.29 Dup NDE1, MYH11, ABCC6, XYLT1 Not mat agenesis (R)/upper limb hypoplasia (R) -
15 M 16p13.11-p12.3 chr16:15131723-16305736 1.17 Del RRN3, NDE1, MYH11, ABCC6 Nd hypoplasia (R), pectus carinatum -
16 F 16q22.3-q23.1 chr16:74087653-74519724 0.43 Dup PSMD7, GLG1 Mat agenesis (L)/upper limb hypoplasia (L), rib defects (1)
20 M Xp11.22 chrX:53666883-54056673 0.39 Dup HUWE1 Mat hypoplasia (R) (1)
  1. aGenes previously implicated in: muscle/limb/skeletal structure and/or development; blood vessel structure and/or development; cell junction organization; cell division. bIn this case the deletion does not encompass any genes, however, since it overlaps 5′ regions of two genes, CDH6, CDH9, these genes were both enclosed in this table as their expression could be impaired by the deletion. Inh = inheritance