Phenotype resembling Donnai-Barrow syndrome in a patient with 9qter;16qter unbalanced translocation.
We describe a 3-year-old boy with complete agenesis of corpus callosum, developmental delay/mental retardation, anterior diaphragmatic hernia, Morgagni type, severe hypermetropia, and facial dysmorphism suggesting the diagnosis of Donnai-Barrow syndrome. Subtelomeric FISH analysis revealed a paternally-derived t(9;16) (q34.3;q24.3) translocation with partial 9q monosomy and partial 16q trisomy. As some facial features resemble the 9q emerging phenotype, we suggest the hypothesis that some patients with Donnai-Barrow syndrome might be abscribed to 9q terminal deletion.
Ferrero
Giovanni Battista
GB
Dipartimento di Scienze Pediatriche, Universita' di Torino, Torino, Italy.
Belligni
Elga
E
Sorasio
Lorena
L
Delmonaco
Angelo Giovanni
AG
Oggero
Roberto
R
Faravelli
Francesca
F
Pierluigi
Mauro
M
Silengo
Margherita
M
D000328:Adult; D061085:Agenesis of Corpus Callosum; D002675:Child, Preschool; D002885:Chromosomes, Human, Pair 16 / Q000235:genetics*; D002899:Chromosomes, Human, Pair 9 / Q000235:genetics*; D003337:Corpus Callosum / Q000000981:diagnostic imaging; D002658:Developmental Disabilities / Q000235:genetics*; D005260:Female; D006548:Hernia, Diaphragmatic / Q000000981:diagnostic imaging / Q000235:genetics; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D010641:Phenotype; D011859:Radiography; D013577:Syndrome; D014178:Translocation, Genetic