A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism

David A. Koolen; Lisenka E.L.M. Vissers; Rolph Pfundt; Nicole De Leeuw; Samantha J.L. Knight; Regina Regan; R. Frank Kooy; Edwin Reyniers; Corrado Romano; Marco Fichera; Albert Schinzel; Alessandra Baumer; Britt Marie Anderlid; Jacqueline Schoumans; Nine V. Knoers; Ad Geurts Van Kessel; Erik A. Sistermans; Joris A. Veltman; Han G. Brunner; Bert B.A. De Vries

doi:10.1038/ng1853

A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism

David A. Koolen, Lisenka E.L.M. Vissers, Rolph Pfundt, Nicole De Leeuw, Samantha J.L. Knight, Regina Regan, R. Frank Kooy, Edwin Reyniers, Corrado Romano, Marco Fichera, Albert Schinzel, Alessandra Baumer, Britt Marie Anderlid, Jacqueline Schoumans, Nine V. Knoers, Ad Geurts Van Kessel, Erik A. Sistermans, Joris A. Veltman, Han G. Brunner, Bert B.A. De Vries^*

^*Corresponding author for this work

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

Abstract

Submicroscopic genomic copy number changes have been identified only recently as an important cause of mental retardation. We describe the detection of three interstitial, overlapping 17q21.31 microdeletions in a cohort of 1,200 mentally retarded individuals associated with a clearly recognizable clinical phenotype of mental retardation, hypotonia and a characteristic face. The deletions encompass the MAPT and CRHR1 genes and are associated with a common inversion polymorphism.

Original language	English
Pages (from-to)	999-1001
Number of pages	3
Journal	Nature Genetics
Volume	38
Issue number	9
DOIs	https://doi.org/10.1038/ng1853
Publication status	Published - 4 Sep 2006

Access to Document

10.1038/ng1853

Cite this

Koolen, D. A., Vissers, L. E. L. M., Pfundt, R., De Leeuw, N., Knight, S. J. L., Regan, R., Kooy, R. F., Reyniers, E., Romano, C., Fichera, M., Schinzel, A., Baumer, A., Anderlid, B. M., Schoumans, J., Knoers, N. V., Van Kessel, A. G., Sistermans, E. A., Veltman, J. A., Brunner, H. G., & De Vries, B. B. A. (2006). A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism. Nature Genetics, 38(9), 999-1001. https://doi.org/10.1038/ng1853

@article{805b0119ce8341619358def7e68f8faf,

title = "A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism",

abstract = "Submicroscopic genomic copy number changes have been identified only recently as an important cause of mental retardation. We describe the detection of three interstitial, overlapping 17q21.31 microdeletions in a cohort of 1,200 mentally retarded individuals associated with a clearly recognizable clinical phenotype of mental retardation, hypotonia and a characteristic face. The deletions encompass the MAPT and CRHR1 genes and are associated with a common inversion polymorphism.",

author = "Koolen, {David A.} and Vissers, {Lisenka E.L.M.} and Rolph Pfundt and {De Leeuw}, Nicole and Knight, {Samantha J.L.} and Regina Regan and Kooy, {R. Frank} and Edwin Reyniers and Corrado Romano and Marco Fichera and Albert Schinzel and Alessandra Baumer and Anderlid, {Britt Marie} and Jacqueline Schoumans and Knoers, {Nine V.} and {Van Kessel}, {Ad Geurts} and Sistermans, {Erik A.} and Veltman, {Joris A.} and Brunner, {Han G.} and {De Vries}, {Bert B.A.}",

year = "2006",

month = sep,

day = "4",

doi = "10.1038/ng1853",

language = "English",

volume = "38",

pages = "999--1001",

journal = "Nature Genetics",

issn = "1061-4036",

publisher = "Nature Publishing Group",

number = "9",

}

Koolen, DA, Vissers, LELM, Pfundt, R, De Leeuw, N, Knight, SJL, Regan, R, Kooy, RF, Reyniers, E, Romano, C, Fichera, M, Schinzel, A, Baumer, A, Anderlid, BM, Schoumans, J, Knoers, NV, Van Kessel, AG, Sistermans, EA, Veltman, JA, Brunner, HG & De Vries, BBA 2006, 'A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism', Nature Genetics, vol. 38, no. 9, pp. 999-1001. https://doi.org/10.1038/ng1853

TY - JOUR

T1 - A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism

AU - Koolen, David A.

AU - Vissers, Lisenka E.L.M.

AU - Pfundt, Rolph

AU - De Leeuw, Nicole

AU - Knight, Samantha J.L.

AU - Regan, Regina

AU - Kooy, R. Frank

AU - Reyniers, Edwin

AU - Romano, Corrado

AU - Fichera, Marco

AU - Schinzel, Albert

AU - Baumer, Alessandra

AU - Anderlid, Britt Marie

AU - Schoumans, Jacqueline

AU - Knoers, Nine V.

AU - Van Kessel, Ad Geurts

AU - Sistermans, Erik A.

AU - Veltman, Joris A.

AU - Brunner, Han G.

AU - De Vries, Bert B.A.

PY - 2006/9/4

Y1 - 2006/9/4

N2 - Submicroscopic genomic copy number changes have been identified only recently as an important cause of mental retardation. We describe the detection of three interstitial, overlapping 17q21.31 microdeletions in a cohort of 1,200 mentally retarded individuals associated with a clearly recognizable clinical phenotype of mental retardation, hypotonia and a characteristic face. The deletions encompass the MAPT and CRHR1 genes and are associated with a common inversion polymorphism.

AB - Submicroscopic genomic copy number changes have been identified only recently as an important cause of mental retardation. We describe the detection of three interstitial, overlapping 17q21.31 microdeletions in a cohort of 1,200 mentally retarded individuals associated with a clearly recognizable clinical phenotype of mental retardation, hypotonia and a characteristic face. The deletions encompass the MAPT and CRHR1 genes and are associated with a common inversion polymorphism.

UR - http://www.scopus.com/inward/record.url?scp=33748323156&partnerID=8YFLogxK

U2 - 10.1038/ng1853

DO - 10.1038/ng1853

M3 - Article

C2 - 16906164

AN - SCOPUS:33748323156

VL - 38

SP - 999

EP - 1001

JO - Nature Genetics

JF - Nature Genetics

SN - 1061-4036

IS - 9

ER -

A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism

Abstract

Access to Document

Other files and links

Cite this