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

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

58 Citations (Scopus)

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.

Original language	English
Pages (from-to)	381-7
Number of pages	7
Journal	American Journal of Medical Genetics
Volume	41
Issue number	3
DOIs	https://doi.org/10.1002/ajmg.1320410321
Publication status	Published - 1 Dec 1991
Externally published	Yes

Keywords

Abnormalities, Multiple/genetics
Cells, Cultured
Child
Child, Preschool
Chromosomes, Human, Pair 12
DNA/genetics
Female
Fibroblasts/physiology
Fluorescence
Humans
Infant, Newborn
Infant, Premature/physiology
Intellectual Disability/genetics
Karyotyping
Male
Mosaicism/genetics
Nucleic Acid Hybridization
Syndrome

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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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year = "1991",

month = dec,

day = "1",

doi = "10.1002/ajmg.1320410321",

language = "English",

volume = "41",

pages = "381--7",

journal = "American Journal of Medical Genetics",

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publisher = "Wiley-Blackwell",

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TY - JOUR

T1 - Pallister-Killian syndrome

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

PY - 1991/12/1

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

KW - Child

KW - Child, Preschool

KW - Chromosomes, Human, Pair 12

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

UR - https://www.scopus.com/pages/publications/0025885573

U2 - 10.1002/ajmg.1320410321

DO - 10.1002/ajmg.1320410321

M3 - Article

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SN - 0148-7299

VL - 41

SP - 381

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

Abstract

Keywords

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