Unbalanced three-way chromosomal translocation leading to deletion 18q and duplication 20p

Renske Oegema; Laura van Zutven; Daniëlla Hassel; Gido Huijbregts; Jeannette Hoogeboom

doi:10.1016/j.ejmg.2012.01.015

Unbalanced three-way chromosomal translocation leading to deletion 18q and duplication 20p

Renske Oegema, Laura van Zutven, Daniëlla Hassel, Gido Huijbregts, Jeannette Hoogeboom

Clinical Genetics

Research output: Contribution to journal › Article › Academic › peer-review

2 Citations (Scopus)

Abstract

In 1980, a case report on a boy with cleft palate, club feet, dysmorphic features, and developmental delay was published by Bijlsma as a possible distinct syndrome. This case is listed in the London Medical Databases version 1.0. We have reevaluated this patient at adult age. Using high resolution karyotyping and Affymetrix 250k SNP array analysis we identified an unbalanced three-way translocation with breakpoints at 17q22, 18q22.1, and 20p12.2 leading to deletion 18q and duplication 20p. Also, a 715 kb duplication in 1p34.2 and a 245 kb deletion at 1p21.1 were found. Mental retardation, cleft palate, and club feet have repeatedly been reported in deletion 18q patients and therefore we conclude that most of the patient'

Original language	Undefined/Unknown
Pages (from-to)	265-268
Number of pages	4
Journal	European Journal of Medical Genetics
Volume	55
Issue number	4
DOIs	https://doi.org/10.1016/j.ejmg.2012.01.015
Publication status	Published - 2012

Research programs

EMC MGC-02-96-01

Access to Document

10.1016/j.ejmg.2012.01.015

http://hdl.handle.net/1765/70598

Cite this

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title = "Unbalanced three-way chromosomal translocation leading to deletion 18q and duplication 20p",

abstract = "In 1980, a case report on a boy with cleft palate, club feet, dysmorphic features, and developmental delay was published by Bijlsma as a possible distinct syndrome. This case is listed in the London Medical Databases version 1.0. We have reevaluated this patient at adult age. Using high resolution karyotyping and Affymetrix 250k SNP array analysis we identified an unbalanced three-way translocation with breakpoints at 17q22, 18q22.1, and 20p12.2 leading to deletion 18q and duplication 20p. Also, a 715 kb duplication in 1p34.2 and a 245 kb deletion at 1p21.1 were found. Mental retardation, cleft palate, and club feet have repeatedly been reported in deletion 18q patients and therefore we conclude that most of the patient'",

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T1 - Unbalanced three-way chromosomal translocation leading to deletion 18q and duplication 20p

AU - Oegema, Renske

AU - van Zutven, Laura

AU - Hassel, Daniëlla

AU - Huijbregts, Gido

AU - Hoogeboom, Jeannette

PY - 2012

Y1 - 2012

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AB - In 1980, a case report on a boy with cleft palate, club feet, dysmorphic features, and developmental delay was published by Bijlsma as a possible distinct syndrome. This case is listed in the London Medical Databases version 1.0. We have reevaluated this patient at adult age. Using high resolution karyotyping and Affymetrix 250k SNP array analysis we identified an unbalanced three-way translocation with breakpoints at 17q22, 18q22.1, and 20p12.2 leading to deletion 18q and duplication 20p. Also, a 715 kb duplication in 1p34.2 and a 245 kb deletion at 1p21.1 were found. Mental retardation, cleft palate, and club feet have repeatedly been reported in deletion 18q patients and therefore we conclude that most of the patient'

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DO - 10.1016/j.ejmg.2012.01.015

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