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- W2977276534 abstract "Distal Trisomy 10q is one of the rare chromosomal abnormalities. Genetic testing was introduced to Ethiopia recently and we present the first report of distal Trisomy10q for the country. A 34-year-old G5P1A3 woman presented for prenatal care at 26 weeks of gestation. Ultrasound showed fetal 8x10 cms right-sided septated chest wall mass with no colour Doppler flow. The other fetal anatomic scan was normal. Fetal MRI revealed a large cystic mass over the right lateral chest wall and axilla with no intra thoracic or intra-abdominal component. Genetic amniocentesis was done, and multiplex ligase-dependent probe amplification assay revealed trisomy 10q with significant copy number change on chromosomal regions 10q26.1 and 10q26.3. The parents were counseled and opted for termination of pregnancy. Pregnancy was terminated medically. A 1050-gram female stillborn with a 7x10 cm multilobulated, grayish-white cystic mass on the right axilla and chest wall was delivered. Autopsy was done and sectioning of the mass showed soft tissue made up of multiple cystic cavities separated by fibrous tracts and filled with thin yellowish fluid. Microscopy revealed different sized and shaped lymphatic vessels on myxoid stroma consistent with lymphangioma. Trisomy 10q presents with diverse manifestations which includes cardiovascular, renal and craniofacial malformations. This case of fetal axillary lymphangioma is an unusual presentation. Trisomy 10q occurs usually due to parental balanced translocation or de novo unbalanced translocation and parental karyotyping is recommended. Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article." @default.
- W2977276534 created "2019-10-10" @default.
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- W2977276534 date "2019-09-30" @default.
- W2977276534 modified "2023-09-26" @default.
- W2977276534 title "EP05.06: Distal Trisomy 10q: a rare genetic abnormality with unusual presentation as fetal axillary lymphangioma" @default.
- W2977276534 doi "https://doi.org/10.1002/uog.21191" @default.
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