title: Trisomy 7p: association with several craniocerebral anomalies and spongy degeneration.
abstract: Partial trisomy 7p has been observed associated with particular anatomo-pathological findings. A newborn female with several congenital anomalies, whose chromosome constitution was: 46,XX,-14, + der (7;14) (7pter----7p11::14p11----14qter), is reported. The patient died at the age of 10 months, because of cardiac failure and autopsy was performed: the microscopic study showed spongy degeneration in the brain.
authors.affiliation: Dipartimento di pediatria dell'Università di Firenze.
authors.forename: F
authors.initials: F
authors.lastname: Bartoloni Saint Omer
authors.forename: A
authors.initials: A
authors.lastname: Calzolari
authors.forename: A
authors.initials: A
authors.lastname: Cecconi
authors.forename: M L
authors.initials: ML
authors.lastname: Giovannucci Uzielli
mesh_terms: D001921:Brain / Q000002:abnormalities* / Q000473:pathology; D001927:Brain Diseases / Q000235:genetics / Q000473:pathology*; D002897:Chromosomes, Human, Pair 7; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D010641:Phenotype; D014314:Trisomy