Shiny updatemore test detail 15

Jenrose

Someone else did a google search on 4q21.1-q21.3 and mentioned there were results but not what to make of them. So I looked too. The chromosome 4 long arm (q) band 21.1 through 21.3 codes for several very important proteins required for cellular function hence life. As mentioned by another poster, Shiny has a second chromosome 4 and clearly that one has intact and normal genes for all these proteins. You know that because Shiny is here.

For what it's worth, the OMIM database covers Online Mendelian Inheritance in Man; it lists human genetic disorders *and* genes not involved in disorders. If you query OMIM for 4q21.1 or 4q21.2 or 4q21.3 (ie, each one) you get a list of these 17 genes and-or genetic disorders:

STEAROYL-CoA DESATURASE 4; SCD4 MATRIX, EXTRACELLULAR, PHOSPHOGLYCOPROTEIN; MEPE KELCH-LIKE 2; KLHL2 DEAFNESS, AUTOSOMAL DOMINANT 39, WITH DENTINOGENESIS IMPERFECTA 1 CHEMOKINE, CXC MOTIF, LIGAND 11; CXCL11 HEPARANASE; HPSE PROTEIN-TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 13; PTPN13 FERTILE EUNUCH SYNDROME GONADOTROPIN-RELEASING HORMONE RECEPTOR; GNRHR DENTINOGENESIS IMPERFECTA 1; DGI1 DENTIN SIALOPHOSPHOPROTEIN; DSPP DENTIN PHOSPHOPROTEIN, INCLUDED; DPP, INCLUDED DENTIN DYSPLASIA, TYPE II CASEIN, BETA; CSN2 CASEIN, ALPHA; CSN1 CASEIN, ALPHA-S1, INCLUDED MITOGEN-ACTIVATED PROTEIN KINASE 10; MAPK10 HOMEOBOX 6A, NK; NKX6A HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN D; HNRPD

None of this looks like anything for you to worry about. For example, item 4 DEAFNESS... That's a dominant mutation, which means for it to apply to Shiny (a) it would be on the intact chromosome and (b) you or Shiny's father would be deaf. More generally, mutations are not deletions! So don't worry about them, okay?

Basically, I see no reason to suppose Shiny's slow weight gain and gagging issues are due to this small chromosome deletion. I am not clear on exactly what these issues involve, though. Jen, maybe you would find it helpful to set aside your other concerns and write in sharp focus just about that?

And remind us again how old she is now, her weight, length, and head circ. at birth, and those measures now.