Karyotype: del 3p (22.3-24.2)
Contact: Pat and Kelly Lucero
Reagan’s microarray came back with the result of an interstitial deletion involving chromosome 3 from 3p24.2 to 3p22.3 (25,045,365-32,691,140) (hg build 19). The deletion size is 7.7 million base pairs and includes 26 genes. The genes are RARB ,TOP2B, MIR4442 ,NGLY1, OXSM, LOC285326, LRRC3B, NEK10, SLC4A7, EOMES, CMC1, AZI2,ZCWPW2, LOC645206, RBMS3, TGFBR2, GADL1, STT3B, OSBPL10, OSBPL10-AS1, ZNF860, GPDIL, CMTM7, CMTM8, CMTM6, AND DYNC1LI1.
He grew and developed normally until about 8 moths old.
His medical problems currently include:
- failure to thrive
- developmental delay (he sits up, but does not crawl, creep, pull up, walk, or talk)
- small pituitary gland
- small kidneys
- left ventricular dilation
- subemendymal heterotopia of the grey matter
- delayed brain mylenation
- severe oral aversion
- feeding disorder
- sleep apnea
- allergies to egg white, yolk, dairy casein, and nuts
- He has a gtube and gets 4 bolus feeds during the day and is on the pump 9 hours at night.
- He receives corn starch prior to each feed to try to keep his blood sugar up.