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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