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A phenotype map for 14q32.3 terminal deletions.

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A phenotype map for 14q32.3 terminal deletions. / Engels, Hartmut; Schüler, Herdit M; Zink, Alexander M; Wohlleber, Eva; Brockschmidt, Antje; Hoischen, Alexander; Drechsler, Matthias; Lee, Jennifer A; Ludwig, Kerstin U; Kubisch, Christian; Schwanitz, Gesa; Weber, Ruthild G; Leube, Barbara; Hennekam, Raoul C M; Rudnik-Schöneborn, Sabine; Kreiss-Nachtsheim, Martina; Reutter, Heiko.

In: AM J MED GENET A, Vol. 158A, No. 4, 4, 2012, p. 695-706.

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Harvard

Engels, H, Schüler, HM, Zink, AM, Wohlleber, E, Brockschmidt, A, Hoischen, A, Drechsler, M, Lee, JA, Ludwig, KU, Kubisch, C, Schwanitz, G, Weber, RG, Leube, B, Hennekam, RCM, Rudnik-Schöneborn, S, Kreiss-Nachtsheim, M & Reutter, H 2012, 'A phenotype map for 14q32.3 terminal deletions.', AM J MED GENET A, vol. 158A, no. 4, 4, pp. 695-706. <http://www.ncbi.nlm.nih.gov/pubmed/22367666?dopt=Citation>

APA

Engels, H., Schüler, H. M., Zink, A. M., Wohlleber, E., Brockschmidt, A., Hoischen, A., Drechsler, M., Lee, J. A., Ludwig, K. U., Kubisch, C., Schwanitz, G., Weber, R. G., Leube, B., Hennekam, R. C. M., Rudnik-Schöneborn, S., Kreiss-Nachtsheim, M., & Reutter, H. (2012). A phenotype map for 14q32.3 terminal deletions. AM J MED GENET A, 158A(4), 695-706. [4]. http://www.ncbi.nlm.nih.gov/pubmed/22367666?dopt=Citation

Vancouver

Engels H, Schüler HM, Zink AM, Wohlleber E, Brockschmidt A, Hoischen A et al. A phenotype map for 14q32.3 terminal deletions. AM J MED GENET A. 2012;158A(4):695-706. 4.

Bibtex

@article{c6a6964b9987433987ab0aa6a78860dc,
title = "A phenotype map for 14q32.3 terminal deletions.",
abstract = "Detailed molecular-cytogenetic studies combined with thorough clinical characterization are needed to establish genotype-phenotype correlations for specific chromosome deletion syndromes. Although many patients with subtelomeric deletions have been reported, the phenotype maps for many of the corresponding syndromes, including the terminal deletion 14q syndrome, are only slowly emerging. Here, we report on five patients with terminal partial monosomy of 14q32.3 and characteristic features of terminal deletion 14q syndrome. Four of the patients carry de novo terminal deletions of 14q, three of which have not yet been reported. One patient carries an unbalanced translocation der(14)t(9;14)(q34.3;q32.3). Minimum deletion sizes as determined by molecular karyotyping and FISH are 5.82, 5.56, 4.17, 3.54, and 3.29?Mb, respectively. Based on our findings and a comprehensive review of the literature, we refine the phenotype map for typical clinical findings of the terminal deletion 14q syndrome (i.e., intellectual disability/developmental delay, muscular hypotonia, postnatal growth retardation, microcephaly, congenital heart defects, genitourinary malformations, ocular coloboma, and several dysmorphic signs). Combining this phenotype map with benign copy-number variation data available from the Database of Genomic Variants, we propose a small region critical for certain features of the terminal deletion 14q syndrome which contains only seven RefSeq genes.",
keywords = "Germany, Humans, Male, Female, Adolescent, Child, Child, Preschool, Genotype, Infant, Phenotype, Netherlands, Turkey, *Genetic Association Studies, Abnormalities, Multiple/genetics, *Chromosome Mapping, Chromosomes, Human, Pair 14/*genetics, Gene Dosage/*genetics, Sequence Deletion/*genetics, Germany, Humans, Male, Female, Adolescent, Child, Child, Preschool, Genotype, Infant, Phenotype, Netherlands, Turkey, *Genetic Association Studies, Abnormalities, Multiple/genetics, *Chromosome Mapping, Chromosomes, Human, Pair 14/*genetics, Gene Dosage/*genetics, Sequence Deletion/*genetics",
author = "Hartmut Engels and Sch{\"u}ler, {Herdit M} and Zink, {Alexander M} and Eva Wohlleber and Antje Brockschmidt and Alexander Hoischen and Matthias Drechsler and Lee, {Jennifer A} and Ludwig, {Kerstin U} and Christian Kubisch and Gesa Schwanitz and Weber, {Ruthild G} and Barbara Leube and Hennekam, {Raoul C M} and Sabine Rudnik-Sch{\"o}neborn and Martina Kreiss-Nachtsheim and Heiko Reutter",
year = "2012",
language = "English",
volume = "158A",
pages = "695--706",
journal = "AM J MED GENET A",
issn = "1552-4825",
publisher = "Wiley-Liss Inc.",
number = "4",

}

RIS

TY - JOUR

T1 - A phenotype map for 14q32.3 terminal deletions.

AU - Engels, Hartmut

AU - Schüler, Herdit M

AU - Zink, Alexander M

AU - Wohlleber, Eva

AU - Brockschmidt, Antje

AU - Hoischen, Alexander

AU - Drechsler, Matthias

AU - Lee, Jennifer A

AU - Ludwig, Kerstin U

AU - Kubisch, Christian

AU - Schwanitz, Gesa

AU - Weber, Ruthild G

AU - Leube, Barbara

AU - Hennekam, Raoul C M

AU - Rudnik-Schöneborn, Sabine

AU - Kreiss-Nachtsheim, Martina

AU - Reutter, Heiko

PY - 2012

Y1 - 2012

N2 - Detailed molecular-cytogenetic studies combined with thorough clinical characterization are needed to establish genotype-phenotype correlations for specific chromosome deletion syndromes. Although many patients with subtelomeric deletions have been reported, the phenotype maps for many of the corresponding syndromes, including the terminal deletion 14q syndrome, are only slowly emerging. Here, we report on five patients with terminal partial monosomy of 14q32.3 and characteristic features of terminal deletion 14q syndrome. Four of the patients carry de novo terminal deletions of 14q, three of which have not yet been reported. One patient carries an unbalanced translocation der(14)t(9;14)(q34.3;q32.3). Minimum deletion sizes as determined by molecular karyotyping and FISH are 5.82, 5.56, 4.17, 3.54, and 3.29?Mb, respectively. Based on our findings and a comprehensive review of the literature, we refine the phenotype map for typical clinical findings of the terminal deletion 14q syndrome (i.e., intellectual disability/developmental delay, muscular hypotonia, postnatal growth retardation, microcephaly, congenital heart defects, genitourinary malformations, ocular coloboma, and several dysmorphic signs). Combining this phenotype map with benign copy-number variation data available from the Database of Genomic Variants, we propose a small region critical for certain features of the terminal deletion 14q syndrome which contains only seven RefSeq genes.

AB - Detailed molecular-cytogenetic studies combined with thorough clinical characterization are needed to establish genotype-phenotype correlations for specific chromosome deletion syndromes. Although many patients with subtelomeric deletions have been reported, the phenotype maps for many of the corresponding syndromes, including the terminal deletion 14q syndrome, are only slowly emerging. Here, we report on five patients with terminal partial monosomy of 14q32.3 and characteristic features of terminal deletion 14q syndrome. Four of the patients carry de novo terminal deletions of 14q, three of which have not yet been reported. One patient carries an unbalanced translocation der(14)t(9;14)(q34.3;q32.3). Minimum deletion sizes as determined by molecular karyotyping and FISH are 5.82, 5.56, 4.17, 3.54, and 3.29?Mb, respectively. Based on our findings and a comprehensive review of the literature, we refine the phenotype map for typical clinical findings of the terminal deletion 14q syndrome (i.e., intellectual disability/developmental delay, muscular hypotonia, postnatal growth retardation, microcephaly, congenital heart defects, genitourinary malformations, ocular coloboma, and several dysmorphic signs). Combining this phenotype map with benign copy-number variation data available from the Database of Genomic Variants, we propose a small region critical for certain features of the terminal deletion 14q syndrome which contains only seven RefSeq genes.

KW - Germany

KW - Humans

KW - Male

KW - Female

KW - Adolescent

KW - Child

KW - Child, Preschool

KW - Genotype

KW - Infant

KW - Phenotype

KW - Netherlands

KW - Turkey

KW - Genetic Association Studies

KW - Abnormalities, Multiple/genetics

KW - Chromosome Mapping

KW - Chromosomes, Human, Pair 14/genetics

KW - Gene Dosage/genetics

KW - Sequence Deletion/genetics

KW - Germany

KW - Humans

KW - Male

KW - Female

KW - Adolescent

KW - Child

KW - Child, Preschool

KW - Genotype

KW - Infant

KW - Phenotype

KW - Netherlands

KW - Turkey

KW - Genetic Association Studies

KW - Abnormalities, Multiple/genetics

KW - Chromosome Mapping

KW - Chromosomes, Human, Pair 14/genetics

KW - Gene Dosage/genetics

KW - Sequence Deletion/genetics

M3 - SCORING: Journal article

VL - 158A

SP - 695

EP - 706

JO - AM J MED GENET A

JF - AM J MED GENET A

SN - 1552-4825

IS - 4

M1 - 4

ER -