Literature DB >> 4646548

Pericentric enversion of chromosome no. 13 in a large family leading to duplication deficiency causing congenital malformations in three individuals.

H Hauksdóttir, S Halldórsson, O Jensson, M Mikkelsen, A McDermott.   

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Year:  1972        PMID： 4646548      PMCID： PMC1469059          DOI： 10.1136/jmg.9.4.413

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


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  8 in total

1.  AN ABERRANT AUTOSOME (13-15) IN A HUMAN FEMALE AND HER FATHER, BOTH APPARENTLY NORMAL.

Authors:  H S CHANDRA; D A HUNGERFORD
Journal:  Cytogenetics       Date:  1963

2.  CEREBRAL GIGANTISM IN CHILDHOOD. A SYNDROME OF EXCESSIVELY RAPID GROWTH AND ACROMEGALIC FEATURES AND A NONPROGRESSIVE NEUROLOGIC DISORDER.

Authors:  J F SOTOS; P R DODGE; D MUIRHEAD; J D CRAWFORD; N B TALBOT
Journal:  N Engl J Med       Date:  1964-07-16       Impact factor: 91.245

3.  The D-I trisomy syndrome.

Authors:  D W SMITH; K PATAU; E THERMAN; S L INHORN; R I DEMARS
Journal:  J Pediatr       Date:  1963-03       Impact factor: 4.406

4.  Identification of G group anomalies in Down's syndrome by quinacrine dihydrochloride fluorescence staining.

Authors:  M Mikkelsen
Journal:  Humangenetik       Date:  1971

5.  Patau's syndrome with D 1 duplication-deficenncy derived from a maternal D group pericentric inversion.

Authors:  J M Parrington; J H Edwards
Journal:  Ann Hum Genet       Date:  1971-07       Impact factor: 1.670

6.  Pericentric inversion in a group D chromosome (13-15) associated with amenorrhea and gonadal dysgenesis.

Authors:  M M Cohen; V J Capraro; N Takagi
Journal:  Ann Hum Genet       Date:  1967-05       Impact factor: 1.670

7.  Pericentric inversion of a number 15 chromosome in nine members of one family.

Authors:  B F Crandall; R S Sparkes
Journal:  Cytogenetics       Date:  1970

8.  Human meiosis: the occurrence of interlocked bivalents in a normal male.

Authors:  A McDermott
Journal:  Ann Hum Genet       Date:  1966-11       Impact factor: 1.670
  8 in total
  24 in total

1.  Partial monosomy and partial trisomy 18 in two offspring of carrier of pericentric inversion of chromosome 18.

Authors:  A M Vianna-Morgante; M J Nozaki; C C Ortega; V Coates; Y Yamamura
Journal:  J Med Genet       Date:  1976-10       Impact factor: 6.318

2.  Further delineation of the clinical picture of trisomy for the distal segment of chromosome 13: report of three cases.

Authors:  A Schinzel; K Hayashi; W Schmid
Journal:  Hum Genet       Date:  1976-04-15       Impact factor: 4.132

3.  A new case of trisomy for the distal part of 13q due to maternal translocation, t(9;13)(p21;q21).

Authors:  M Jotterand; E Juillard
Journal:  Hum Genet       Date:  1976-08-30       Impact factor: 4.132

4.  Phenotype-karyotype correlation in patients trisomic for various segments of chromosome 13.

Authors:  S A Tharapel; R C Lewandowski; A T Tharapel; R S Wilroy
Journal:  J Med Genet       Date:  1986-08       Impact factor: 6.318

5.  Loop formation and synaptic adjustment in a human male heterozygous for two pericentric inversions.

Authors:  M R Guichaoua; D Delafontaine; R Taurelle; J L Taillemite; M R Morazzani; J M Luciani
Journal:  Chromosoma       Date:  1986       Impact factor: 4.316

6.  Different forms of incomplete trisomy 13. Mosaicism and partial trisomy for the proxim.

Authors:  A Schinzel; W Schmid
Journal:  Humangenetik       Date:  1974

7.  Acrocentric associations in mongol populations.

Authors:  D J Curtis
Journal:  Humangenetik       Date:  1974-04-24

8.  Partial trisomy 13q21toqter de novo due to a recombinant chromosome rec(13)dup q.

Authors:  M Habedank
Journal:  Hum Genet       Date:  1979-11-01       Impact factor: 4.132

Review 9.  Pericentric inversions. Problems and significance for clinical genetics.

Authors:  P Kaiser
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132

10.  The aetiology of the cat eye syndrome reconsidered.

Authors:  G Guanti
Journal:  J Med Genet       Date:  1981-04       Impact factor: 6.318
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