Duplication 8 [inv dup(8)(p12p23)] with macrocephaly.
A 10-month old female is described with inv dup(8)(p12p23) who had macrocephaly with subtle changes in facial appearance and no structural birth defects. Her findings, together with those of 37 reported cases with inv dup (8), define a syndrome that emphasizes the importance of genes on the 8p region for brain development.
Tonk
V S
VS
Department of Pediatrics, Texas Tech University Health Sciences Center, Lubbock, Texas, USA.
Wilson
G N
GN
Velagaleti
G V
GV
D002552:Cerebral Ventricles / Q000002:abnormalities; D002675:Child, Preschool; D002869:Chromosome Aberrations; D002898:Chromosomes, Human, Pair 8 / Q000235:genetics*; D019465:Craniofacial Abnormalities / Q000175:diagnosis* / Q000235:genetics*; D005260:Female; D020440:Gene Duplication; D006801:Humans; D007223:Infant; D008214:Lymphocytes / Q000166:cytology; D013346:Subarachnoid Space / Q000002:abnormalities; D013577:Syndrome