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) |