Trisomy 13

O le Trisomy 13 (e taʻua foi o le Patau syndrome) ose faʻamaʻi lea e maua ai e le tagata kopi e tolu mai le chromosome 13, ae leʻo le kopi masani e 2. E seasea lava, o le faʻaopoopoga mea mafai ono faapipii atu i se isi chromosome (translocation).

Trisomy 13 e tupu pe a faʻaopopo DNA mai le chromosome 13 e aliali mai i nisi poʻo sela uma o le tino.

• Trisomy 13: o le i ai o se faʻaopopo (tolu) chromosome 13 i sela uma.
• Mosaic trisomy 13: o le i ai o se faʻaopoopo chromosome 13 i nisi o sela.
• Partial trisomy 13: o le i ai o se vaega o le faʻaopoopo chromosome 13 i totonu o sela.

O le faʻaopopo mea e faʻalavelave i le atinaʻe masani.

Trisomy 13 e tupu pe a ma le tasi mai le 10,000 pepe fou. Tele o mataupu e le pasi i lalo i aiga (tofi). Nai lo lena, o mea e tutupu e tau atu ai i le trisomy 13 e tupu i le sperm poʻo le fuamoa e fausia ai le fetus.

Faʻailoga aofia ai:

• Lemu laugutu poʻo le gutu
• Lima uʻuina (ma tamatamai lima i fafo o luga o tamailima i totonu)
• Moeiini mo ou mata - mata e mafai ona fusia faʻatasi i le tasi
• Faʻaitiitia le maso maso
• Faʻatulagaina tamatamailima poʻo tamatamaivae (polydactyly)
• Hernias: umbilical hernia, inguinal hernia
• Faʻavae, vaeluaina, pe vaeluaina i le iris (coloboma)
• Taliga maualalo
• O le le atoatoa le mafaufau, ogaoga
• Maʻila ole laʻau (leiloa paʻu)
• Faoa faamalosi
• Fofo palal nofofua
• Auivi (vae) faʻaleagaina
• Laʻititi mata
• Uliʻi ulu (microcephaly)
• Auvae laʻau maualalo (micrognathia)
• Testimoni maualalo (cryptorchidism)

O le pepe atonu e tasi le alatoto i le taimi na fanau ai. E masani ona iai faʻailoga ole maʻi fatu ole fanau mai, e pei ole:

• Le faʻatulagaina masani ole fatu ile itu taumatau ole pusa ae le o le agavale
• Faaletonu septial Atrial
• Patent ductus arteriosus
• Faaletonu septric Ventricular

Gastrointestinal x-ave poʻo le ultrasound ono faʻaali mai le fefulisaʻi o totoga i totonu.

MRI poʻo le CT scans o le ulu ono faʻaalia ai se faʻafitauli ma le fausaga ole faiʻai. O le faʻafitauli e taʻua o le holoprosencephaly. O le tuʻufaʻatasia o itu e lua o le faiʻai.

O suʻesuʻega a le Chromosome e faʻaalia ai le trisomy 13, trisomy 13 mosaicism, poʻo le vaega trisomy.

E leai se togafitiga faʻapitoa mo le trisomy 13. E eseese togafitiga mai le tasi tamaititi i le tamaititi ma e faʻamoemoeina ile faʻailoga faʻapitoa.

Vaega lagolago mo le trisomy 13 aofia ai:

• Lagolago Faʻalapotopotoga mo Trisomy 18, 13 ma Fesoʻotaʻiga Fesoasoani (SOFT): trisomy.org
• Faamoemoe mo Trisomy 13 ma 18: www.hopefortrisomy13and18.org

Sili atu 90% o tamaiti ma trisomy 13 oti i le tausaga muamua.

Togafitiga amata vave. Tele tamaiti pepe ma trisomy 13 ua maua i le fatu fatu fatu.

Faʻafitauli e ono aofia ai:

• Manava manava pe leai se manava (apnea)
• Tutuli
• Fafagaina faʻafitauli
• Le lava le fatu
• Faoa faamalosi
• Faʻafitauli vaʻai

Valaʻau lau fomaʻi pe a fai na e maua se tamaititi ua maua i le trisomy 13 ma ua e fuafuaina e toe maua seisi tama. O fesoasoani faʻavae e mafai ona fesoasoani i aiga ia malamalama i le tulaga, le ono aʻafia ona fai, ma pe faʻafefea ona tausi le tagata.

Trisomy 13 mafai ona faʻamaonia ae e leʻi fanau mai e le amniocentesis ma suʻesuʻega o le chromosome o sela sela.

Matua o pepe ma trisomy 13 lea e mafua mai i le fesuiaʻiga tatau ona i ai faʻataʻitaʻiga keni ma fautuaga. Atonu e fesoasoani lenei mea ia latou mataala i avanoa e maua ai seisi tamaititi e maua i le maʻi.

Patau syndrome

• Polydactyly - lima o se pepe
• Syndactyly

Bacino CA, Lee B. Cytogenetics. I le: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Tusitusiga o Pediatrics. 21 ed. Filatelefia, PA: Elsevier; 2020: chap 98.

Madan-Khetarpal S, Arnold G. Genetic faʻafitauli ma tulaga faʻamaʻi. I: Zitelli BJ, McIntire SC, Nowalk AJ, eds. Zitelli ma Davis 'Atlas o Pediatric Physical Diagnosis. 7th ed. Filatelefia, PA: Elsevier; 2018: mata 1