| Remarks |
Clinically affected; onset of symptoms at birth; agenesis of corpus callosum; post natal short stature; microcephaly; psychomotor retardation; gastroesophageal reflux; inguinal hernia; facial dysmorphism; brachycephalic; submitter aCGH data: Result: 1) interstitial microdeletion of approximately 5.6 - 5.7 Mb from the chromosome bands 14q12-q13.1 - causal,
2) interstitial microduplication of approximately 335-388 kb in the chromosome band 7q36.2 - unclear clinical significance arr [hg19] 7q36.2 (153,450,150x2,153,488,374-153,823,089x3,153,837,795x2), 14q12q13.1 (28,995,246x2,29,023,400-34,618,446x1,34,646,659x2); EEG normal. |