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Published: 2024-08-18
Abstract Views: 73
DOI: https://doi.org/10.52724/tcnk.v17i4.358
Issue
Vol. 17 No. 4 (2024)
Section
Case report

BÁO CÁO CA BỆNH BẤT THƯỜNG NHIỄM SẮC THỂ HIẾM GẶP: MẤT ĐOẠN MỘT PHẦN NHIỄM SẮC THỂ 21q

Ngô Thị Bích Ngọc, An Thùy Lan, Hoàng Thị Thanh Mộc, Đinh Thị Hồng Nhung, Trần Thị Nga, Lê Thị Liễu, Trần Thị Huyền, Nguyễn Xuân Huy, Dương Thị Thu Thủy, Hoàng Tiến Chung, Phạm Quốc Tuấn, Ngô Diễm Ngọc

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Abstract

SUMMARY: Partial deletion of the long arm of chromosome 21 (21q) is a rare chromosomal abnormality with highly variable phenotypic manifestations depending on the location and size of the deletion. Common clinical features include: facial abnormalities, microcephaly, heart defects, seizures, psychomotor retardation and mild to severe intellectual disability.... This study reports a case of a 5-day-old male patient was hospitalized because of respiratory failure, congenital heart defects, decreased muscle tone, and facial abnormalities. The patient had cytogenetic testing techniques performed at the National Children's Hospital with results of chromosome formula and results of fluorescence in situ hybridization (FISH): 46,XY,del(21)(q22.2).ish del(21)(D21S259/D21S341/D21S342-).

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Keywords

Nhiễm sắc thể 21, mất đoạn nhiễm sắc thể 21q, 21q22, Chromosome 21, deletion of chromosomes 21q

References

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