Chromosome 3 Disorder Logo



KARYOTYPE:  del 3p (22.3-24.2)
DOB:  3/23/13
Contact: Pat and Kelly Lucero
E-mail:  This email address is being protected from spambots. You need JavaScript enabled to view it.

 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.