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

Renske Oegema; Laura J.C.M. Van Zutven; Daniella A.C.M. Van Hassel; Guido C.M. Huijbregts; Jeannette M.A. Hoogeboom

doi:10.1016/j.ejmg.2012.01.015

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

Renske Oegema^*, Laura J.C.M. Van Zutven, Daniella A.C.M. Van Hassel, Guido C.M. Huijbregts, Jeannette M.A. Hoogeboom

^*Corresponding author for this work

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

1 Citation (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's features can be explained by an 18q deletion.

Original language	English
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 - 1 Apr 2012

Keywords

Chromosome 18 deletion syndrome
Cleft palate
Duplication 20p
Mental retardation
Unbalanced translocation

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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's features can be explained by an 18q deletion.",

keywords = "Chromosome 18 deletion syndrome, Cleft palate, Duplication 20p, Mental retardation, Unbalanced translocation",

author = "Renske Oegema and {Van Zutven}, {Laura J.C.M.} and {Van Hassel}, {Daniella A.C.M.} and Huijbregts, {Guido C.M.} and Hoogeboom, {Jeannette M.A.}",

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AU - Oegema, Renske

AU - Van Zutven, Laura J.C.M.

AU - Van Hassel, Daniella A.C.M.

AU - Huijbregts, Guido C.M.

AU - Hoogeboom, Jeannette M.A.

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N2 - 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's features can be explained by an 18q deletion.

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's features can be explained by an 18q deletion.

KW - Chromosome 18 deletion syndrome

KW - Cleft palate

KW - Duplication 20p

KW - Mental retardation

KW - Unbalanced translocation

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JO - European Journal of Medical Genetics

JF - European Journal of Medical Genetics

IS - 4

ER -

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

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Keywords

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