Literature DB >> 637922

Clinical experience with trisomies 18 and 13.

M E Hodes, J Cole, C G Palmer, T Reed.   

Abstract

The clinical, cytogenetic, dermatoglyphic, and postmortem observations of the 29 cases of trisomy 18 and 19 cases of trisomy 13 seen in the Department of Medical Genetics from 1963-76 are summarised. Chromosomes were studied in all and 30 were banded. One patient had tertiary trisomy 18 and 8 had translocations of chromosome 13. The features of these patients are described and the syndromes compared with each other and summaries found in the literature.

Entities:  

Mesh：

Year:  1978        PMID： 637922      PMCID： PMC1012823          DOI： 10.1136/jmg.15.1.48

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


  18 in total

1.  AUTOSOMAL TRISOMY SYNDROMES, EXCLUDING DOWN'S.

Authors:  A I TAYLOR; P E POLANI
Journal:  Guys Hosp Rep       Date:  1964

2.  A new trisomic syndrome.

Authors:  J H EDWARDS; D G HARNDEN; A H CAMERON; V M CROSSE; O H WOLFF
Journal:  Lancet       Date:  1960-04-09       Impact factor: 79.321

3.  Multiple congenital anomaly caused by an extra autosome.

Authors:  K PATAU; D W SMITH; E THERMAN; S L INHORN; H P WAGNER
Journal:  Lancet       Date:  1960-04-09       Impact factor: 79.321

4.  Blood cell enzymes in trisomy E (18) syndrome.

Authors:  M A Baughan; R S Sparkes; D E Paglia; M G Wilson
Journal:  J Med Genet       Date:  1969-03       Impact factor: 6.318

5.  Enzyme activity in D trisomies.

Authors:  B Hall; A Dahlqvist
Journal:  Lancet       Date:  1971-10-23       Impact factor: 79.321

Review 6.  Dermatoglyphics and syndromes.

Authors:  M Preus; F C Fraser
Journal:  Am J Dis Child       Date:  1972-12

7.  Analysis of 137 cases of the trisomy-D syndrome.

Authors:  G I Lazyuk; G I Kravtosova; V P Kulazhenko; S S Usoev
Journal:  Sov Genet       Date:  1974-01-15

Review 8.  Patau's, Edwards' and Cri du Chat syndromes: a tabulated summary of current findings.

Authors:  A I Taylor
Journal:  Dev Med Child Neurol       Date:  1967-02       Impact factor: 5.449

9.  Partial deletions and trisomies of chromosome 13; mapping of bands associated with particular malformations.

Authors:  B Noel; B Quack; M O Rethore
Journal:  Clin Genet       Date:  1976-06       Impact factor: 4.438

10.  Enzyme determinations in three cases of trisomy 18 syndrome (Edwards' syndrome).

Authors:  J Sabater; M Puliol; J Antich
Journal:  Enzyme       Date:  1971
View more
  21 in total

1.  Natural history of trisomy 18.

Authors:  N D Embleton; J P Wyllie; M J Wright; J Burn; S Hunter
Journal:  Arch Dis Child Fetal Neonatal Ed       Date:  1996-07       Impact factor: 5.747

2.  Trisomy 18: a nine year review.

Authors:  A Bergin; S P McManus; T A Clarke; M Moloney
Journal:  Ir J Med Sci       Date:  1988-01       Impact factor: 1.568

3.  Trisomy 18 in neonates: prenatal diagnosis, clinical features, therapeutic dilemmas and outcome.

Authors:  Barbara Goc; Zofia Walencka; Agata Włoch; Ewa Wojciechowska; Danuta Wiecek-Włodarska; Joanna Krzystolik-Ładzińska; Klaudiusz Bober; Janusz Swietliński
Journal:  J Appl Genet       Date:  2006       Impact factor: 3.240

4.  Parental origin of the extra chromosome in trisomy 18.

Authors:  K G Kupke; U Müller
Journal:  Am J Hum Genet       Date:  1989-10       Impact factor: 11.025

5.  Trisomy 13 and extended survival.

Authors:  J M Cowen; S Walker; F Harris
Journal:  J Med Genet       Date:  1979-04       Impact factor: 6.318

6.  Single crease on the 5th finger in medical disorders and in normal population.

Authors:  A Rodewald; H Wischerath
Journal:  J Med Genet       Date:  1979-10       Impact factor: 6.318

7.  The pathology of trisomy 13 syndrome. A study of 12 cases.

Authors:  P Moerman; J P Fryns; K van der Steen; A Kleczkowska; J Lauweryns
Journal:  Hum Genet       Date:  1988-12       Impact factor: 4.132

8.  Comparison of brain imaging and neuropathology in cases of trisomy 18 and 13.

Authors:  M Inagaki; Y Ando; T Mito; A Ieshima; K Ohtani; S Takashima; K Takeshita
Journal:  Neuroradiology       Date:  1987       Impact factor: 2.804

9.  Truncus arteriosus associated with trisomy 18.

Authors:  J W Moore; N E Wight; M C Jones; H F Krous
Journal:  Pediatr Cardiol       Date:  1994 May-Jun       Impact factor: 1.655

10.  Dicentric chromosome 13 and centromere inactivation.

Authors:  S Schwartz; C G Palmer; D D Weaver; J Priest
Journal:  Hum Genet       Date:  1983       Impact factor: 4.132
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.