Here I present: “Cat Cry Syndrome”, Victor McKusick, Mendelian Inheritance in Man’, 1966. 貓哭綜合症。
INTRODUCTION.
Cat Cry Syndrome was first described in 1963 as a hereditary congenital syndrome associated with deletion of part of the short arm of chromosome 5. The deletions can vary in size from extremely small and involving only band 5p15.2 to the entire short arm. Although the majority of deletions arise as new mutations, approximately 12% result from unbalanced segregation of translocations or recombination involving a pericentric inversion in one of the parents.
The cytogenetic location of 5p15.2 is genomic coordinates 9,900,001-15,000,000 bp (base pairs) of DNA sequence length. Ten (10) genes in the 5p15.2 cytogenetic location are listed BELOW.
| Coordinate | Symbol | Genomic Name |
| 5:10,277,595 | CMBL | Carboxymethylenebutenolidase-like protein |
| 5:10,353,695 | MARCH6… | Membrane-associated RING-CH finger protein 6 |
| 5:10,441,879 | ROPN1L | ROPN1-like protein |
| 5:10,679,230 | DAP | Death-associated protein |
| 5:10,971,836 | CTNND2 | Catenin, delta-2 |
| 5:12,574,857 | LINC01194 | Long intergenic noncoding RNA 1194 |
| 5:13,690,328 | DNAH5 | Dynein, axonemal, heavy chain 5 |
| 5:14,143,342 | TRIO | Triple functional domain |
| 5:14,664,718 | OTULIN | OTU deubiquitinase with linear linkage specificity |
| 5:14,704,800 | ANKH | ANKH inorganic pyrophosphate transport regulator |
