“Down Syndrome Critical Region”, Victor McKusick, Mendelian Inheritance in Man’, 1966. 唐氏綜合症危急區域。(DSCR). was the topic of earlier blog post.
Here I present: “Face2Gene”, Victor McKusick, Mendelian Inheritance in Man’, 1966. CONTINUED.
INTRODUCTION.
ATOP the blog post is the human karyotype with genomic coordinates lengths of the chromosomal DNA. At the center is Genetic Code (RNA to amino acids). The examination of patients can be see as selecting among the twenty-thousand four-hundred twelve (20,412) genes in the human body.
For the featured Down syndrome IMAGE, a software application such as Face2Gene should refer you the Down syndrome critical region (DSCR) at genomic coordinate 21:41,200,001 base pairs. The Down syndrome critical region (DSCR) is listed BENEATH with nine (9) genes in the genomic region.
| Coordinate | Symbol | Genomic Name |
| 21:39,867,438 | PCP4 | Purkinje cell protein 4 |
| 21:40,010,999 | DSCAM | DS cell adhesion molecule |
| 21:41,168,160 | BACE2 | Beta-site amyloid beta A4 protein-cleaving enzyme 2 |
| 21:41,175,231 | PLAC4 | Placenta-specific gene 4 |
| 21:41,200,001 | DSCR | Down syndrome chromosome region |
| 21:41,200,001 | HPE1 | Holoprosencephaly-1, alobar |
| 21:41,304,242 | FAM3B | Family with sequence 3, member B |
| 21:41,362,027 | MX2 | MX dynamin-like GTPase 2 |
| 21:41,420,558 | MX1 | MX dynamin-like GTPase 1 |
| 21:41,464,305 | TMPRSS2 | Transmembrane protease, serine 2 |
