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Literature DB >> 2002482

Tetrasomy 12p (Pallister-Killian syndrome).

A Schinzel¹.

Abstract

Entities: Disease

Mesh：

Year: 1991 PMID： 2002482 PMCID： PMC1016781 DOI： 10.1136/jmg.28.2.122

Source DB: PubMed Journal: J Med Genet ISSN： 0022-2593 Impact factor: 6.318

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16 in total

1. The pallister mosaic syndrome.

Authors: P D Pallister; L F Meisner; B R Elejalde; U Francke; J Herrmann; J Spranger; W Tiddy; S L Inhorn; J M Opitz
Journal: Birth Defects Orig Artic Ser Date: 1977

2. Prenatal diagnosis of tetrasomy 21.

Authors: V Lopes; E Mak; P R Wyatt
Journal: Prenat Diagn Date: 1985 May-Jun Impact factor: 3.050

3. Mosaic tetrasomy 12p.

Authors: S Gilgenkrantz; P Droulle; M Schweitzer; B Foliguet; B Chadefaux; M Lombard; M Chery; M Prieur
Journal: Clin Genet Date: 1985-12 Impact factor: 4.438

4. Isochromosome 12p mosaicism (Pallister-Killian syndrome): newborn diagnosis by direct bone marrow analysis.

Authors: B E Ward; M W Hayden; A Robinson
Journal: Am J Med Genet Date: 1988-12

5. Case of Pallister-Killian syndrome with imperforate anus.

Authors: A E Lin; M Clemens; K L Garver; S L Wenger; M W Steele
Journal: Am J Med Genet Date: 1988-11

6. Mosaic tetrasomy 21 in a liveborn male infant.

Authors: A G Hunter; B Clifford; M Speevak; S B MacMurray
Journal: Clin Genet Date: 1982-04 Impact factor: 4.438

7. Mosaic tetrasomy 21 in a male child.

Authors: M L Kwee; P G Barth; F Arwert; K Madan
Journal: Clin Genet Date: 1984-08 Impact factor: 4.438

8. Mosaic tetrasomy 21 in severe mental handicap.

Authors: J P Fryns; P Petit; L Vinken; J Geutjens; J Marien; H Van den Berghe
Journal: Eur J Pediatr Date: 1982-09 Impact factor: 3.183

9. Molecular analysis of the isochromosome 12P in the Pallister-Killian syndrome. Construction of a mouse-human hybrid cell line containing an i(12p) as the sole human chromosome.

Authors: J Zhang; P Marynen; K Devriendt; J P Fryns; H Van den Berghe; J J Cassiman
Journal: Hum Genet Date: 1989-11 Impact factor: 4.132

10. Chromosomal mosaicism in the Killian/Teschler-Nicola syndrome.

Authors: L J Raffel; T Mohandas; D L Rimoin
Journal: Am J Med Genet Date: 1986-08

27 in total

1. Mechanisms and consequences of small supernumerary marker chromosomes: from Barbara McClintock to modern genetic-counseling issues.

Authors: Erin L Baldwin; Lorraine F May; April N Justice; Christa L Martin; David H Ledbetter
Journal: Am J Hum Genet Date: 2008-02 Impact factor: 11.025

9. Pallister-Killian syndrome: normal karyotype in prenatal chorionic villi, in postnatal lymphocytes, and in slowly growing epidermal cells, but mosaic tetrasomy 12p in skin fibroblasts.

Authors: D Horn; F Majewski; B Hildebrandt; H Körner
Journal: J Med Genet Date: 1995-01 Impact factor: 6.318

10. A non-isotopic in situ hybridisation study of the chromosomal origin of 15 supernumerary marker chromosomes in man.

Authors: J A Crolla; N R Dennis; P A Jacobs
Journal: J Med Genet Date: 1992-10 Impact factor: 6.318

Tetrasomy 12p (Pallister-Killian syndrome).

1. The pallister mosaic syndrome.

2. Prenatal diagnosis of tetrasomy 21.

3. Mosaic tetrasomy 12p.

4. Isochromosome 12p mosaicism (Pallister-Killian syndrome): newborn diagnosis by direct bone marrow analysis.

5. Case of Pallister-Killian syndrome with imperforate anus.

6. Mosaic tetrasomy 21 in a liveborn male infant.

7. Mosaic tetrasomy 21 in a male child.

8. Mosaic tetrasomy 21 in severe mental handicap.

9. Molecular analysis of the isochromosome 12P in the Pallister-Killian syndrome. Construction of a mouse-human hybrid cell line containing an i(12p) as the sole human chromosome.

10. Chromosomal mosaicism in the Killian/Teschler-Nicola syndrome.

1. Mechanisms and consequences of small supernumerary marker chromosomes: from Barbara McClintock to modern genetic-counseling issues.

2. The Pallister-Killian syndrome in a child with rare karyotype--a diagnostic problem.

3. An Indian boy with additional features in Pallister-Killian syndrome.

4. Karotypic abnormalities in human induced pluripotent stem cells and embryonic stem cells.

5. Update and Review: Supernumerary Marker Chromosomes.

Review 6. Genetic and biologic classification of infantile spasms.

7. Characterization of supernumerary ring marker chromosomes by fluorescence in situ hybridization (FISH).

8. Seizures and Cardiomyopathy in a Patient with Pallister-Killian Syndrome due to Hexasomy 12p Mosaicism.

9. Pallister-Killian syndrome: normal karyotype in prenatal chorionic villi, in postnatal lymphocytes, and in slowly growing epidermal cells, but mosaic tetrasomy 12p in skin fibroblasts.

10. A non-isotopic in situ hybridisation study of the chromosomal origin of 15 supernumerary marker chromosomes in man.