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Table 2 Families with only microduplications of the 20p13p12.2 region, in particular duplications encompassing and in proximity to the BMP2 gene

From: A 6.3 Mb maternally derived microduplication of 20p13p12.2 in a fetus with Brachydactyly type D and related literature review

Families

Origins

Genes involved

Location on chromosome 20(hg38)

Size of duplicated region

Clinical phenotype

Reference(s)

Family 1

Chinese

BMP2 and 10 more genes (see Table 1)

4,391,799–10,729,546

6.3 Mb

Unilateral thumb and hallux brachydactyly and hypoplastic nail

This study

Family 2

Caucasian

Noncoding region, downstream BMP2, HAO1 and TMX4, and the first two exons of PLCB1

7,476,899–8,245,726

768.8 kb

Wolff–Parkinson–White (WPW) syndrome, no Brachydactyly

PMID:23239491

Family 3

Brazilian

Noncoding region, downstream BMP2

6,788,776–6,794,671

5.9 kb

Shortening of the second mesophalanx, a medial deviation in the proximal interphalangeal joint and absent of phalangeal flexion creases

PMID: 19327734 PMID: 7390514

Family 4

European

Noncoding region, downstream BMP2

6,789,124–6,794,671

5.5 kb

Hypoplastic, triangular middle phalanges

PMID: 19327734

Family 5

Chinese

Noncoding region, downstream BMP2

6,789,865–6,794,535

4.7 kb

Typical phenotypes of BDA2 characterized by medially deviated and shortened index fingers and second toes with abnormal interdigital joint formation

PMID: 24710560

Family 6

Chinese

Noncoding region, downstream BMP2

6,790,029–6,794,691

4.7 kb

Shortened, ulnar deviated, F2 malformed fingers and toes; F3 F4 syndactyl, variable phenotypes within the family

PMID: 21357617

Family 7

Chinese

Noncoding region, downstream BMP2

6,841,807–6,846,477

4.7 kb

Deviated, shortened index fingers with triangular-shaped middle phalanges, as well as in second toes, highly consistent within the family

PMID: 29129813