Trisomy 7p: association with several craniocerebral anomalies and spongy degeneration.
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.
Bartoloni Saint Omer
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F
Dipartimento di pediatria dell'Università di Firenze.
Calzolari
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A
Cecconi
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A
Giovannucci Uzielli
M L
ML
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