Literature DB >> 7173267

Mosaic tetrasomy 21 in severe mental handicap.

J P Fryns, P Petit, L Vinken, J Geutjens, J Marien, H Van den Berghe.   

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Year:  1982        PMID： 7173267     DOI： 10.1007/bf00442089

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN： 0340-6199            Impact factor:   3.183


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  11 in total

1.  CYTOGENETICS OF DOWN'S SYNDROME (MONGOLISM). 3. FREQUENCY OF INTERCHANGE OF TRISOMICS AND MUTATION RATE OF CHROMOSOME INTERCHANGES.

Authors:  P E POLANI; J L HAMERTON; F GIANNELLI; C O CARTER
Journal:  Cytogenetics       Date:  1965

2.  A new case of the trisomy 9P syndrome. Report of a patient with unusual chromosome findings (46,XX/47,XX, + i (9p) and a peculiar congenital heart defect.

Authors:  E Orye; H Verhaaren; H Van Egmond; A Devloo-Blancquaert
Journal:  Clin Genet       Date:  1975-02       Impact factor: 4.438

3.  A gene for hypospadias in a child with presumed tetrasomy 18p.

Authors:  G B Côté; S Petmezaki; N Bastakis
Journal:  Am J Med Genet       Date:  1979

4.  Chromosome constitution of 500 infants dying during the perinatal period. With an appendix concerning other genetic disorders among these infants.

Authors:  G A Machin; J A Crolla
Journal:  Humangenetik       Date:  1974

5.  [Partial tetrasomy of number 9 chromosome, and mosaicism in a child with multiple malformations (author's transl)].

Authors:  D Ghymers; B Hermann; C Distèche; J Frederic
Journal:  Humangenetik       Date:  1973-12-10

6.  Partial tetrasomy 9(9pter to 9q2101) due to an extra iso-dicentric chromosome.

Authors:  T Abe; M Morita; K Kawai; S Misawa; T Takino; H Hashimoto; Y Nakagome
Journal:  Ann Genet       Date:  1977-06

7.  Gene dosage effect for GALT in 9p trisomy and in 9p tetrasomy with an improved technique for GALT determination.

Authors:  P Eydoux; C Junien; S Despoisse; J Chassevent; C Bibring; C Gregori
Journal:  Hum Genet       Date:  1981       Impact factor: 4.132

8.  Partial tetrasomy 9 in a liveborn infant.

Authors:  L Wisniewski; G D Politis; J V Higgins
Journal:  Clin Genet       Date:  1978-09       Impact factor: 4.438

9.  Tetrasomy 9p: confirmation by enzyme analysis.

Authors:  S J Moedjono; B F Crandall; R S Sparkes
Journal:  J Med Genet       Date:  1980-06       Impact factor: 6.318

10.  The "cat eye syndrome": dicentric small marker chromosome probably derived from a no.22 (tetrasomy 22pter to q11) associated with a characteristic phenotype. Report of 11 patients and delineation of the clinical picture.

Authors:  A Schinzel; W Schmid; M Fraccaro; L Tiepolo; O Zuffardi; J M Opitz; J Lindsten; P Zetterqvist; H Enell; C Baccichetti; R Tenconi; R A Pagon
Journal:  Hum Genet       Date:  1981       Impact factor: 4.132
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  5 in total

1.  Tetrasomy 12p (Pallister-Killian syndrome).

Authors:  A Schinzel
Journal:  J Med Genet       Date:  1991-02       Impact factor: 6.318

2.  Molecular cytogenetic study of patients with Pallister-Killian syndrome.

Authors:  M Larramendy; M Heiskanen; M Wessman; A Ritvanen; P Peltomäki; K Simola; H Kääriäinen; H von Koskull; M Kähkönen; S Knuutila
Journal:  Hum Genet       Date:  1993-03       Impact factor: 4.132

3.  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

Review 4.  Pallister-Killian Syndrome versus Trisomy 12p-A Clinical Study of 5 New Cases and a Literature Review.

Authors:  Aurora Arghir; Roxana Popescu; Irina Resmerita; Magdalena Budisteanu; Lacramioara Ionela Butnariu; Eusebiu Vlad Gorduza; Mihaela Gramescu; Monica Cristina Panzaru; Sorina Mihaela Papuc; Adriana Sireteanu; Andreea Tutulan-Cunita; Cristina Rusu
Journal:  Genes (Basel)       Date:  2021-05-26       Impact factor: 4.096

5.  Pallister-Killian syndrome: clinical, cytogenetic and molecular findings in 15 cases.

Authors:  Birsen Karaman; Hülya Kayserili; Asadollah Ghanbari; Zehra Oya Uyguner; Güven Toksoy; Umut Altunoglu; Seher Basaran
Journal:  Mol Cytogenet       Date:  2018-08-17       Impact factor: 2.009
  5 in total

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