Mosaic trisomy 8, inonziwo Warkany syndrome, ichromosomal abnormality umo mune imwe chromosome 8 mune mamwe masero emuviri. Zviratidzo, zvikonzero, chiitiko, kuongorora… Zvese zvaunoda kuti uzive nezve trisomy 8.

Trisomy ichromosomal abnormality inoratidzwa nekuvapo kweimwe chromosome mune maviri echromosomes. Zvechokwadi, muvanhu, karyotype yakajairwa (ese machromosomes emusero) ine 23 mapeya ekromosomes: 22 pairs yemakromosomes uye imwe peya yepabonde chromosomes (XX muvasikana uye XY muvakomana).

Chromosomal abnormalities inoumba panguva yekusangana. Zvizhinji zvacho zvinoguma nokungobvisa pamuviri kwepamuviri nokuti chibereko hachikwanisi kushanda. Asi mune mamwe matrisomies, fetus inokwanisa uye mimba inopfuurira kusvikira mwana aberekwa. Matrisomies anonyanyozivikanwa pakuzvarwa matrisomies 21, 18 uye 13 uye mosaic trisomy 8. Matatu echromosome ezvepabonde anowanikwawo pamwe nekusanganisa kwakati wandei:

• Trisomy X kana katatu X syndrome (XXX);
• Klinefelter's syndrome (XXY);
• Jacob's Syndrome (XYY).

Mosaic trisomy 8 inobata pakati pe1 mu25 ne000 mumwana mumwe chete anozvarwa. Inobata vakomana kupfuura vasikana (1 times more). Iyi chromosomal abnormality inoratidzwa muvana nekuremara kwepfungwa (mune dzimwe nguva) kunoenderana nekuremara kumeso (facial dysmorphia) uye osteoarticular abnormalities.

Kuremara kwepfungwa kunoratidzwa nehunhu hweusimbe muvana vane mosaic trisomy 8.

Facial dysmorphia inoratidzwa ne:

• huma yakakwirira uye yakakurumbira;
• chiso chakareba;
• mhino yakafara, yakasimudzwa;
• muromo muhombe une muromo unoshamisa wepazasi, une nyama uye wakakombamira kunze;
• maziso akadonha uye strabismus yeziso;
• chirebvu chidiki chakarembera chakanyorwa nedimple yakatwasuka;
• nzeve dzine pavilion hombe;
• mutsipa wakafara uye mapendekete akamanikana.

Anomalies yemagumo anowanzoitika muvana ava (tsoka dzekirabhu, hallux valgus, flexion contractures, yakadzika palmar uye plantar folds). Mune 40% yezviitiko, kukanganisa kweurinary turakiti kunoonekwa uye mu25% yezviitiko zvekusagadzikana kwemoyo nemidziyo mikuru.

Vanhu vane mosaic trisomy 8 vane tarisiro yehupenyu yakajairika mukushaikwa kwekuremara kwakanyanya. Nekudaro, iyi chromosomal abnormality inoratidzika kunge inofanobata vatakuri kuWilms tumors (yakashata itsvo bundu muvana), myelodysplasias (bone marrow chirwere) uye myeloid leukemias (kenza yeropa).

Kuchengeta kwacho kwakawanda, mwana wega wega ane matambudziko chaiwo. Kuvhiyiwa kwemoyo kunogona kutariswa muhupo hwekushaikwa kwemoyo kunoshanda.

Kunze kwe trisomy 21, prenatal screening for trisomies inogoneka nekuita fetal karyotype. Izvi zvinofanirwa kuitwa nguva dzose mukubvumirana nevabereki mushure mekubvunzurudzwa kwechiremba kuti vawane mazano ezvekubereka. Muedzo uyu unopihwa kune vakaroora vari panjodzi huru yekusagadzikana uku:

• kana njodzi inoonekwa isati yatanga kubata pamuviri nekuti kune nhoroondo yemhuri yechromosomal anomaly;
• zvingava njodzi yacho isingatarisirwi asi prenatal chromosome screening (inopihwa kuvakadzi vose vane pamuviri) yakaratidza kuti pamuviri paive muboka renjodzi kana kuti zvimwe zvisiri izvo zvakaonekwa paultrasound.

Kuzadzikiswa kweiyo fetal karyotype inogona kuitwa:

• kana nekutora amniotic fluid kuburikidza neamniocentesis kubva kumavhiki gumi nemashanu ekuzvitakura;
• kana kuti nekuita choriocentesis inonziwo trophoblast biopsy (kubvisa chisungo cheprecursor tissue of the placenta) pakati pemasvondo gumi nematatu negumi nemashanu enhumbu.