New findings in partial trisomy 16q: clinical report.
Partial trisomy 16q is a rare disorder associated with significant dysmorphism, psychomotor retardation and limited postnatal survival. A female infant with a partial trisomy 16q from a de novo translocation 11;16 is described. Clinical findings were consistent with previous reports, with the exceptions of megalocornea, partial callosal agenesis and mild bilateral occipital lobe hypoplasia.


CONCLUSIONS
Based on this clinical report, megalocornea, partial callosal agenesis and mild bilateral occipital lobe hypoplasia should perhaps be included in the list of anomalies associated with partial trisomy 16q.
Sousa
B
B
Neonatal Intensive Care Unit, Department of Paediatrics, São João Hospital, Porto, Portugal.
Rocha
G
G
Doria
S
S
Alves
J R
JR
Guedes
B
B
Guimarães
H
H
D002869:Chromosome Aberrations; D002885:Chromosomes, Human, Pair 16; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D014178:Translocation, Genetic / Q000235:genetics*; D014314:Trisomy / Q000235:genetics* / Q000503:physiopathology