Literature DB >> 669718

Balanced and unbalanced pericentric inversion of a chromosome 14.

R A Pfeiffer, E Kessel.   

Abstract

Description of a pericentric inversion of a chromosome 14 with breakpoints at p11 and q23 leading to duplication-deficiency as a result of crossing over.

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Year:  1978        PMID： 669718     DOI： 10.1007/BF00396485

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  14 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.  Partial trisomy 14q due to familial t(14q-,11q+) translocation.

Authors:  J P Fryns; M Van Eygen; W Tanghe; H Van Den Berghe
Journal:  Hum Genet       Date:  1977-06-10       Impact factor: 4.132

3.  46,XX/47XX, + 14 mosaicism in a liveborn infant.

Authors:  A O Martin; M M Ford; N T Khalil; K B Turk; M N Macintyre
Journal:  J Med Genet       Date:  1977-06       Impact factor: 6.318

4.  A prenatally discovered unbalanced translocation t(14;22) (q22 or 23;q13).

Authors:  J WAHLSTROM
Journal:  Hereditas       Date:  1974       Impact factor: 3.271

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

Authors:  H Hauksdóttir; S Halldórsson; O Jensson; M Mikkelsen; A McDermott
Journal:  J Med Genet       Date:  1972-12       Impact factor: 6.318

6.  Partial trisomy 14 following a balanced reciprocal translocation t(14q-;21q+).

Authors:  R A Pfeiffer; K Büttinghaus; H Struck
Journal:  Humangenetik       Date:  1973

7.  Inherited pericentric inversion of a group D (13-15) chromosome.

Authors:  R B Surana; P E Conen
Journal:  J Med Genet       Date:  1972-03       Impact factor: 6.318

8.  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

9.  [Trisomy D2 in a 2 and one-half year old girl (47,XX,14+)].

Authors:  J D Murken; M Bauchinger; D Palitzsch; H Pfeifer; J Suschke; H Haendle
Journal:  Humangenetik       Date:  1970

10.  [Mosaic 14 trisomy in a female child with multiple abnormalities].

Authors:  M O Rethoré; J Couturier; S Carpentier; J Ferrand; J Lejeune
Journal:  Ann Genet       Date:  1975-03
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  4 in total

Review 1.  Distal trisomy 14q. I. Clinical and cytogenetical studies.

Authors:  S Gilgenkrantz; J Vigneron; M O Peter; J L Dufier; M Teboul; M Chery; G Keyeux; M P Lefranc
Journal:  Hum Genet       Date:  1990-10       Impact factor: 4.132

Review 2.  Pericentric inversions. Problems and significance for clinical genetics.

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

3.  Pericentric inversions in man: personal experience and review of the literature.

Authors:  A Kleczkowska; J P Fryns; H Van den Berghe
Journal:  Hum Genet       Date:  1987-04       Impact factor: 4.132

Review 4.  A Recurrent De Novo Terminal Duplication of 14q32 in Korean Siblings Associated with Developmental Delay and Intellectual Disability, Growth Retardation, Facial Dysmorphism, and Cerebral Infarction: A Case Report and Literature Review.

Authors:  Ji Yoon Han; Joonhong Park
Journal:  Genes (Basel)       Date:  2021-09-07       Impact factor: 4.096
  4 in total

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