11p15.4 Microdeletion Associates with Hemihypertrophy.

Surasak PuvabanditsinMehrin SadiqMarianne JacobMaaz JalilKenya CabreraOmer ChoudryRajeev Mehta

Published in: Case reports in genetics (2018)

We report a preterm female infant with intrauterine growth retardation, dysmorphic facies, missing rib, small hands and feet, and hemihypertrophy. The results of whole genome SNP microarray analysis showed approximately 77 Kb interstitial deletion of the short arm of chromosome 11 (11p15.4). We report novel clinical findings of this rare genetic condition.

Keyphrases

genome wide
copy number
low birth weight
preterm birth
gene expression
dna methylation
bioinformatics analysis