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Published: 2023-03-31
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DOI: https://doi.org/10.52852/tcncyh.v164i3.1466
Issue
Vol. 164 No. 3 (2023)
Section
Các bài báo
How to Cite
Lan, A. T. ., Mộc, H. T. T. ., Nga, T. T. ., Nhung, Đinh T. H. ., Liễu, L. T. ., Ngọc, N. T. B. ., Huyền, T. T. ., Huy, N. X. ., Thủy, D. T. T. ., & Ngọc, N. D. . (2023). 32. Emanuel syndrome: A case report at Vietnam National Children’s Hospital. Journal of Medical Research, 164(3), 267-275. https://doi.org/10.52852/tcncyh.v164i3.1466

32. Emanuel syndrome: A case report at Vietnam National Children’s Hospital

An Thuy Lan, Hoang Thi Thanh Moc, Tran Thi Nga, Dinh Thi Hong Nhung, Le Thi Lieu, Ngo Thi Bich Ngoc, Tran Thi Huyen, Nguyen Xuan Huy, Duong Thi Thu Thuy, Ngo Diem Ngoc

Main Article Content

Abstract

Emanuel syndrome is a rare genomic syndrome that is characterized by multiple anomalies and developmental disabilities (OMIM609029). Mental and developmental retardation are major clinical features. This syndrome is related to the presence of the supernumerary derivative chromosome originating from both chromosomes 11 and 22. Affected children are usually identified in the newborn period as the offspring of balanced (11;22) translocation carriers. We report a one-month-old boy with der(22)t(11;22)(q23;q11) chromosome, transmitted in an unbalanced fashion from his father. He has a severe mental disabilityand some congenital abnormalities. Cytogenetic revealed a karyotype 47,XY,+der(22)t(11;22)(q23;q11). To determine the origin and trait of this supernumerary derivative chromosome der(22), karyotyping of his parents was performed. The father was found to be a balanced carrier: 46,XY,t(11;22)(q23;q11).

Article Details

Keywords

Emanuel syndrome, congenital abnormalities, supernumerary derivative chromosome 22: der(22)t(11;22)(q23;q11)

References

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