Pallister-Killian syndrome: characterization of the isochromosome 12p by fluorescent in situ hybridization

F Speleman; J G Leroy; N Van Roy; A De Paepe; R Suijkerbuijk; H Brunner; L Looijenga; M R Verschraegen-Spae; E Orye

doi:10.1002/ajmg.1320410321

Pallister-Killian syndrome: characterization of the isochromosome 12p by fluorescent in situ hybridization

F Speleman, J G Leroy, N Van Roy, A De Paepe, R Suijkerbuijk, H Brunner, L Looijenga, M R Verschraegen-Spae, E Orye

Onderzoeksoutput: Bijdrage aan tijdschrift › Artikel › peer review

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The isochromosome 12p (i(12p)) in fibroblasts of 3 patients with Pallister-Killian syndrome and one decreased prematurely born neonate, was characterized by fluorescent in situ hybridization (FISH) using chromosome 12-specific DNA probes. FISH is a useful technique for rapid and reliable detection and characterization of the i(12p) chromosome in Pallister-Killian patients. Detection was possible also in interphase cells. In addition, the in vitro selection against i(12p) cells at different passages in fibroblast cultures of two patients was monitored.

Originele taal-2	Engels
Pagina's (van-tot)	381-7
Aantal pagina's	7
Tijdschrift	American journal of medical genetics
Volume	41
Nummer van het tijdschrift	3
DOI's	https://doi.org/10.1002/ajmg.1320410321
Status	Gepubliceerd - 1 dec. 1991
Extern gepubliceerd	Ja

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title = "Pallister-Killian syndrome: characterization of the isochromosome 12p by fluorescent in situ hybridization",

abstract = "The isochromosome 12p (i(12p)) in fibroblasts of 3 patients with Pallister-Killian syndrome and one decreased prematurely born neonate, was characterized by fluorescent in situ hybridization (FISH) using chromosome 12-specific DNA probes. FISH is a useful technique for rapid and reliable detection and characterization of the i(12p) chromosome in Pallister-Killian patients. Detection was possible also in interphase cells. In addition, the in vitro selection against i(12p) cells at different passages in fibroblast cultures of two patients was monitored.",

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author = "F Speleman and Leroy, {J G} and {Van Roy}, N and {De Paepe}, A and R Suijkerbuijk and H Brunner and L Looijenga and Verschraegen-Spae, {M R} and E Orye",

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doi = "10.1002/ajmg.1320410321",

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T2 - characterization of the isochromosome 12p by fluorescent in situ hybridization

AU - Speleman, F

AU - Leroy, J G

AU - Van Roy, N

AU - De Paepe, A

AU - Suijkerbuijk, R

AU - Brunner, H

AU - Looijenga, L

AU - Verschraegen-Spae, M R

AU - Orye, E

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Y1 - 1991/12/1

N2 - The isochromosome 12p (i(12p)) in fibroblasts of 3 patients with Pallister-Killian syndrome and one decreased prematurely born neonate, was characterized by fluorescent in situ hybridization (FISH) using chromosome 12-specific DNA probes. FISH is a useful technique for rapid and reliable detection and characterization of the i(12p) chromosome in Pallister-Killian patients. Detection was possible also in interphase cells. In addition, the in vitro selection against i(12p) cells at different passages in fibroblast cultures of two patients was monitored.

AB - The isochromosome 12p (i(12p)) in fibroblasts of 3 patients with Pallister-Killian syndrome and one decreased prematurely born neonate, was characterized by fluorescent in situ hybridization (FISH) using chromosome 12-specific DNA probes. FISH is a useful technique for rapid and reliable detection and characterization of the i(12p) chromosome in Pallister-Killian patients. Detection was possible also in interphase cells. In addition, the in vitro selection against i(12p) cells at different passages in fibroblast cultures of two patients was monitored.

KW - Abnormalities, Multiple/genetics

KW - Cells, Cultured

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KW - Child, Preschool

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KW - DNA/genetics

KW - Female

KW - Fibroblasts/physiology

KW - Fluorescence

KW - Humans

KW - Infant, Newborn

KW - Infant, Premature/physiology

KW - Intellectual Disability/genetics

KW - Karyotyping

KW - Male

KW - Mosaicism/genetics

KW - Nucleic Acid Hybridization

KW - Syndrome

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EP - 387

JO - American journal of medical genetics

JF - American journal of medical genetics

IS - 3

ER -

Pallister-Killian syndrome: characterization of the isochromosome 12p by fluorescent in situ hybridization

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