A novel case of infantile sacral teratoma and a constitutional t(12;15)(q13;q25) pat

Imke Veltman; Martien van Asseldonk; Marga Schepens; Hans Stoop; Leendert Looijenga; Cokkie Wouters; Lutgarde Govaerts; Ron Suijkerbuijk; Ad van Kessel

doi:10.1016/s0165-4608(01)00666-5

A novel case of infantile sacral teratoma and a constitutional t(12;15)(q13;q25) pat

Imke Veltman, Martien van Asseldonk, Marga Schepens, Hans Stoop, Leendert Looijenga, Cokkie Wouters, Lutgarde Govaerts, Ron Suijkerbuijk, Ad van Kessel

Onderzoeksoutput: Bijdrage aan tijdschrift › Artikel › peer review

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Cytogenetic analysis of peripheral lymphocytes of an infantile patient with a sacral teratoma revealed a constitutional translocation (12;15)(q13;q25) pat. The same translocation was found in four additional relatives. Loss of heterozygosity analysis of the patient's tumor material showed retention of both translocation-derived chromosomes. Since allelic loss in the 12q13 region has been observed in germ cell tumors, we hypothesize that disregulation of genes located at or near the 12q13 breakpoint may be related to the development of this sacral teratoma. As a first step towards the identification of these genes, a 12q13 genomic contig that spans the breakpoint has been constructed.

Originele taal-2	Engels
Pagina's (van-tot)	17-22
Aantal pagina's	6
Tijdschrift	Cancer genetics and cytogenetics
Volume	136
Nummer van het tijdschrift	1
DOI's	https://doi.org/10.1016/s0165-4608(01)00666-5
Status	Gepubliceerd - 1 jul. 2002
Extern gepubliceerd	Ja

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@article{bdf094a7df5d4027836ed9274cdd788f,

title = "A novel case of infantile sacral teratoma and a constitutional t(12;15)(q13;q25) pat",

abstract = "Cytogenetic analysis of peripheral lymphocytes of an infantile patient with a sacral teratoma revealed a constitutional translocation (12;15)(q13;q25) pat. The same translocation was found in four additional relatives. Loss of heterozygosity analysis of the patient's tumor material showed retention of both translocation-derived chromosomes. Since allelic loss in the 12q13 region has been observed in germ cell tumors, we hypothesize that disregulation of genes located at or near the 12q13 breakpoint may be related to the development of this sacral teratoma. As a first step towards the identification of these genes, a 12q13 genomic contig that spans the breakpoint has been constructed.",

keywords = "Chromosome Mapping, Chromosomes, Artificial, Yeast, Chromosomes, Human, Pair 12, Chromosomes, Human, Pair 15, Contig Mapping, Humans, In Vitro Techniques, Infant, Karyotyping, Loss of Heterozygosity, Sacrococcygeal Region, Teratoma/genetics, Translocation, Genetic",

author = "Imke Veltman and {van Asseldonk}, Martien and Marga Schepens and Hans Stoop and Leendert Looijenga and Cokkie Wouters and Lutgarde Govaerts and Ron Suijkerbuijk and {van Kessel}, Ad",

year = "2002",

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doi = "10.1016/s0165-4608(01)00666-5",

language = "English",

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pages = "17--22",

journal = "Cancer genetics and cytogenetics",

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TY - JOUR

T1 - A novel case of infantile sacral teratoma and a constitutional t(12;15)(q13;q25) pat

AU - Veltman, Imke

AU - van Asseldonk, Martien

AU - Schepens, Marga

AU - Stoop, Hans

AU - Looijenga, Leendert

AU - Wouters, Cokkie

AU - Govaerts, Lutgarde

AU - Suijkerbuijk, Ron

AU - van Kessel, Ad

PY - 2002/7/1

Y1 - 2002/7/1

N2 - Cytogenetic analysis of peripheral lymphocytes of an infantile patient with a sacral teratoma revealed a constitutional translocation (12;15)(q13;q25) pat. The same translocation was found in four additional relatives. Loss of heterozygosity analysis of the patient's tumor material showed retention of both translocation-derived chromosomes. Since allelic loss in the 12q13 region has been observed in germ cell tumors, we hypothesize that disregulation of genes located at or near the 12q13 breakpoint may be related to the development of this sacral teratoma. As a first step towards the identification of these genes, a 12q13 genomic contig that spans the breakpoint has been constructed.

AB - Cytogenetic analysis of peripheral lymphocytes of an infantile patient with a sacral teratoma revealed a constitutional translocation (12;15)(q13;q25) pat. The same translocation was found in four additional relatives. Loss of heterozygosity analysis of the patient's tumor material showed retention of both translocation-derived chromosomes. Since allelic loss in the 12q13 region has been observed in germ cell tumors, we hypothesize that disregulation of genes located at or near the 12q13 breakpoint may be related to the development of this sacral teratoma. As a first step towards the identification of these genes, a 12q13 genomic contig that spans the breakpoint has been constructed.

KW - Chromosome Mapping

KW - Chromosomes, Artificial, Yeast

KW - Chromosomes, Human, Pair 12

KW - Chromosomes, Human, Pair 15

KW - Contig Mapping

KW - Humans

KW - In Vitro Techniques

KW - Infant

KW - Karyotyping

KW - Loss of Heterozygosity

KW - Sacrococcygeal Region

KW - Teratoma/genetics

KW - Translocation, Genetic

U2 - 10.1016/s0165-4608(01)00666-5

DO - 10.1016/s0165-4608(01)00666-5

M3 - Article

C2 - 12165446

SN - 0165-4608

VL - 136

SP - 17

EP - 22

JO - Cancer genetics and cytogenetics

JF - Cancer genetics and cytogenetics

IS - 1

ER -

A novel case of infantile sacral teratoma and a constitutional t(12;15)(q13;q25) pat

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