Trisomia 13-Sindrome di Patau
Generalità
La trisomia 13 o sindrome di Patau è una mutazione genomica molto rara con frequenza 1/5000, 1/20000 bambini nati, colpendo per lo più femmine. Il cariotipo dell’individuo che ne è affetto presenta tre copie del cromosoma 13 invece delle normali due. Nei feti affetti da trisomia 13 la morte endouterina si verifica in oltre il 95% dei casi. Dal punto di vista genotipico la trisomia libera riguarda circa il 75% dei casi. Nel 15-20 % dei casi la trisomia 13 si associa alla traslocazione robertsoniana nella quale il cromosoma soprannumerario 13 è attaccato ad un ostacolo cromosoma acrocentrico (cromosoma 13, 14, 15, 21 o 22).
Quadro clinico
Il quadro clinico della trisomia 13 è caratterizzato da anomalie facciali eterogenee di gravità variabile:
- Ipertelorismo
- Agenesia premascellare (80% dei casi)
- Cebocefalia
- Ciclopia
- Assenza dello scheletro nasale
- Labiopalatoschisi
- Anoftalmia
- Coloboma
- Aplasia cutanea della regione occipitale
- Oloprosencefalia
- Polidattilia
- Onfalocele
- Malformazioni viscerali
- Cardiopatie (64%)
- Anomalie renali (6%)
- Anomalie dei genitali
- Grave ritardo psicomotorio
I sintomi neurologici sono gravi con:
- ipotonia
- iporeattività
- apparente assenza di percezione dell’ambiente.
Il rischio di ricorrenza della trisomia 13 nelle famiglie nelle quali è presente un caso indice è circa all’ 1%. Nei casi di trisomia da traslocazione robertsoniana il rischio di ricorrenza è più elevato, se un genitore è portatore della traslocazione bilanciata.
Diagnosi
La diagnosi prenatale di trisomia 13 può essere sospettata con l’evidenza di segni ecografici quali malformazioni cerebrali e facciali in particolare:
- oloprosencefalia
- sinoftalmia
- anoftalmia
- malformazione nasali e del palato
- malformazioni cardiache
- anomalie renali
- onfalocele
- polidattilità
La diagnosi è confermata dall’ analisi citogenetica (cariotipo)
Trattamento
Il trattamento chirurgico delle malformazioni può migliorare solo minimamente la prognosi poco favorevole associata a questa sindrome: la metà dei pazienti muore il primo mese di vita e il 90% nel primo anno per complicazioni cardiache, renale o neurologiche. Sono stati descritti pazienti sopravvissuti in alcuni casi fino all’età adulta, nei quali è spesso presente la trisomia in mosaico o la trisomia parziale, in assenza di gravi malformazioni cerebrali. In generale, i pazienti non in mosaico hanno una limitata autonomia (assenza di linguaggio e di deambulazione).
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