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“Brachydactyly 2q37-Deletion Syndrome”, Victor McKusick, Mendelian Inheritance in Man, 1966. 弱智智力迟钝综合征。(BDMR).

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Here I present: Brachydactyly 2q37-Deletion Syndrome”, Victor McKusick, Mendelian Inheritance in Man’, 1966. 弱智智力迟钝综合征。(BDMR).

INTRODUCTION.

INTRODUCTION.

The three (3) cytogenetic locations group similar conditions of Brachydactyly 2q37–DeletionSyndrome are listed BELOW.

LOCATION.    COORDINATES.
2q37.1     230,000,001-234,700,000.

2q37.2    234,700,001-236,400,000.

2q37.3     236,400,001-242,193,529.

Brachydactyly is a term denoting the presence of abnormally short digits (fingers or toes) at birth. The shortness is relative to the length of other long bones and other parts of the body. Brachydactyly is an inherited, dominant trait. It most often occurs as an isolated dysmelia but can also occur with other anomalies as part of many congenital syndromes. Brachydactyly may also be a signal that one is at risk for congenital heart disease due to the association between congenital heart disease and Carpenter syndrome and the link between Carpenter syndrome and brachydactyly.

Deletion of chromosome 2q37 results in a congenital syndrome brachydactyly mental retardation (BDMR) syndrome; a syndrome which has phenotypes similar to Albright hereditary osteodystrophy (AHO) syndrome. Clinicians must have brachydactyly mental retardation (BDMR) syndrome in consideration when they are faced with the features of Albright hereditary osteodystrophy (AHO) syndrome.

There is evidence that brachydactyly mental retardation (BDMR) syndrome is caused by a deletion on cytogenetic location 2q37 and genomic coordinates 230,000,001-242,193,529.  The screenshot of the BDRM gene 12,093,529 bp (base pairs) of DNA sequence  length is shown BELOW.   Nine (9) other genes besides BDRM in the 2q37 cytogenetic location are listed BENEATH.

Coordinate  Symbol  Genomic Name.
2:229023973  PID1 Phosphotyrosine interaction domain 1
2:229357629  DNER Delta-and notch egf-related receptor
2:229763837  TRIP12 Thyroid hormone receptor protein 12
2:229922503  FBXO36 F-box only protein 36
2:230100001 BDMR 2q37 deletion syndrome
2:230100001  HPE6 Holoprosencephaly 6
2:230100001  MYP12 Myopia 12
2:230100001  STQTL Stature quantitative trait locus 21
2:230,165,186  SP110 SP110 nuclear body protein 
2:230,186,151  SP140 Nuclear body protein sp140

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