Literature DB >> 4646556

Trisomy-18 syndrome caused by translocation or isochromosome formation. A case report with bibliography.

H Müller, E M Bühler, E Signer, F Egli, G R Stalder.   

Abstract

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Year:  1972        PMID： 4646556      PMCID： PMC1469081          DOI： 10.1136/jmg.9.4.462

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


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  48 in total

1.  TRISOMY 17-18(E): STUDIES IN LONG-TERM SURVIVAL WITH REPORT OF TWO AUTOPSIED CASES.

Authors:  W W WEBER; P MAMUNES; R DAY; P MILLER
Journal:  Pediatrics       Date:  1964-10       Impact factor: 7.124

2.  [THE MALFORMATIVE SYNDROME OF CHROMOSOME 18 TRISOMY].

Authors:  N NIGRO; P FRANCESCHINI; G VOLANTE
Journal:  Minerva Pediatr       Date:  1964-04-21       Impact factor: 1.312

3.  PHOCOMELIA AND TRISOMY E.

Authors:  H ZELLWEGER; D S HUFF; G ABBO
Journal:  Acta Genet Med Gemellol (Roma)       Date:  1965-04

4.  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

5.  A DEFECTIVE EXTRA CHROMOSOME ASSOCIATED WITH CLINICAL 17-18 TRISOMY SYNDROME.

Authors:  J Q MILLER; M J ROSTAFINSKI; M S HYDE
Journal:  Pediatrics       Date:  1965-07       Impact factor: 7.124

6.  [On a case of 17 trisomy].

Authors:  J LEJEUNE; P DELTHIL; R BERGER
Journal:  Arch Fr Pediatr       Date:  1963 Jun-Jul

7.  Trisomy-17 syndrome. Report of three cases and review of the literature.

Authors:  M I GOTTLIEB; K HIRSCHHORN; H L COOPER; N LUSSKIN; R E MOLOSHOK; H L HODES
Journal:  Am J Med       Date:  1962-11       Impact factor: 4.965

8.  The 18-trisomy syndrome-a spectrum?

Authors:  E H HEINRICHS; S W ALLEN
Journal:  Clin Pediatr (Phila)       Date:  1963-01       Impact factor: 1.168

9.  An extra small metacentric chromosome in a mentally retarded boy.

Authors:  J Ishmael; K M Laurence
Journal:  J Med Genet       Date:  1968-12       Impact factor: 6.318

10.  Brain malformations in the trisomy 18 syndrome.

Authors:  S M Sumi
Journal:  Brain       Date:  1970       Impact factor: 13.501
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  8 in total

Review 1.  Centric fission--simple and complex mechanisms.

Authors:  Jo Perry; Howard R Slater; K H Andy Choo
Journal:  Chromosome Res       Date:  2004       Impact factor: 5.239

2.  Trisomy 18 with karyotype 47,XX,-18,+i psu dic(18p).

Authors:  D R Romain; P Dagger; L M Columbano-Green; R H Smythe; R G Parfitt
Journal:  J Med Genet       Date:  1992-07       Impact factor: 6.318

3.  Prenatal detection of short arm deletion and isochromosome 18 formation investigated by molecular techniques.

Authors:  M B Qumsiyeh; A Tomasi; M Taslimi
Journal:  J Med Genet       Date:  1995-12       Impact factor: 6.318

4.  Normal phenotype with maternal isodisomy in a female with two isochromosomes: i(2p) and i(2q)

Authors:  F Bernasconi; A Karagüzel; F Celep; I Keser; G Lüleci; F Dutly; A A Schinzel
Journal:  Am J Hum Genet       Date:  1996-11       Impact factor: 11.025

5.  Prenatal detection of monosomy 18p and trisomy 18q mosaicism with unexpected fetal phenotype.

Authors:  S D Sutton; M A Ridler
Journal:  J Med Genet       Date:  1986-06       Impact factor: 6.318

6.  Morphology alone does not make an isochromosome.

Authors:  S M Schmutz; E Pinno
Journal:  Hum Genet       Date:  1986-03       Impact factor: 4.132

7.  Trisomy 18 syndrome with an unusual karyotype: possible double isochromosome.

Authors:  L M Larson; W A Wasdahl; J H Saumur; M L Coleman; S M Jalal
Journal:  J Med Genet       Date:  1978-02       Impact factor: 6.318

8.  47,XX,+der(18),t(9;18)(p24;q21) mat: a distinct partial trisomy 18q--syndrome?

Authors:  H N Bass; F Weber-Parisi; R S Sparkes
Journal:  J Med Genet       Date:  1978-10       Impact factor: 6.318
  8 in total

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