Literature DB >> 7035334

Adjacent 2 meiotic disjunction. report of a case resulting from a familial 13q;15q balanced reciprocal translocation and review of the literature.

D P Duckett, S H Roberts.   

Abstract

An abnormal short-lived female infant with almost complete trisomy 13 (pter leads to q32 or 33) and partial monosomy 15 (pter leads to q14 or 15) resulting from an adjacent 2 meiotic disjunction of a paternal reciprocal translocation is described. Cases with monosomy of chromosome 15 material are reviewed. It appears likely that monosomy of an interstitial long arm segment, approximating to 15q21 leads to 24, imparts the lethality associated with the full monosomic condition. Adjacent 2 disjunction in man has been further characterised by reviewing the literature.

Entities:  

Mesh:

Year:  1981        PMID: 7035334     DOI: 10.1007/bf00282819

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


  51 in total

1.  Physical and mental defect of chromosomal origin in four individuals of the same family. Trisomy for the short arm of 9.

Authors:  C E Blank; D C Colver; A M Potter; J McHugh; J Lorber
Journal:  Clin Genet       Date:  1975-04       Impact factor: 4.438

2.  PARTIAL TRISOMY-DEFICIENCY SYNDROME RESULTING FROM A RECIPROCAL TRANSLOCATION IN A LARGE KINDRED.

Authors:  I A UCHIDA; H C WANG; O E LAXDAL; W A ZALESKI; B P DUNCAN
Journal:  Cytogenetics       Date:  1964

3.  Cri-du-chat and trisomy 13 syndromes in an infant with an unbalanced chromosomal translocation.

Authors:  J Leisti; M M Kaback; D L Rimoin
Journal:  Birth Defects Orig Artic Ser       Date:  1975

4.  [T (14q-; 21q + ) translocation in the father. Partial trisomy 14 and monosomy 21 in the daughter].

Authors:  C Laurent; B Dutrillaux; M C Biemont; J Genoud; M Bethenod
Journal:  Ann Genet       Date:  1973-12

5.  Frequency of deletion of short arm satellites in acrocentric chromosomes.

Authors:  J Nielsen; U Friedrich; A B Hreidarsson
Journal:  J Med Genet       Date:  1974-06       Impact factor: 6.318

6.  [Trial classification of D group chromosome long arm deletions. Apropos of a 15q- case].

Authors:  C Laurent; B Noel; M David
Journal:  Ann Genet       Date:  1971-03

7.  Structural differences in reciprocal translocations. Potential for a model of risk in Rcp.

Authors:  A Daniel
Journal:  Hum Genet       Date:  1979-10-01       Impact factor: 4.132

8.  15/15 translocation in Prader-Willi syndrome.

Authors:  M Fraccaro; O Zuffardi; E M Buhler; L P Jurik
Journal:  J Med Genet       Date:  1977-08       Impact factor: 6.318

9.  Reciprocal translocations: a way to predict the mode of imbalanced segregation by pachytene-diagram drawing.

Authors:  P Jalbert; B Sele; H Jalbert
Journal:  Hum Genet       Date:  1980       Impact factor: 4.132

10.  Apert's syndrome (a type of acrocephalosyndactyly)-observations on a British series of thirty-nine cases.

Authors:  C E BLANK
Journal:  Ann Hum Genet       Date:  1960-05       Impact factor: 1.670

View more
  5 in total

Review 1.  Viability thresholds for partial trisomies and monosomies. A study of 1,159 viable unbalanced reciprocal translocations.

Authors:  O Cohen; C Cans; M A Mermet; J Demongeot; P Jalbert
Journal:  Hum Genet       Date:  1994-02       Impact factor: 4.132

2.  Proximal 15q monosomy.

Authors:  D P Duckett
Journal:  J Med Genet       Date:  1982-10       Impact factor: 6.318

Review 3.  Chromosome 15 anomalies and the Prader-Willi syndrome: cytogenetic analysis.

Authors:  M G Mattei; N Souiah; J F Mattei
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132

4.  Unbalanced reciprocal translocations in cases of Prader-Willi syndrome.

Authors:  D P Duckett; S H Roberts; P Davies
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132

5.  Complex chromosome rearrangements related 15q14 microdeletion plays a relevant role in phenotype expression and delineates a novel recurrent syndrome.

Authors:  Maria Cristina Roberti; Cecilia Surace; Maria Cristina Digilio; Gemma D'Elia; Pietro Sirleto; Rossella Capolino; Antonietta Lombardo; Anna Cristina Tomaiuolo; Stefano Petrocchi; Adriano Angioni
Journal:  Orphanet J Rare Dis       Date:  2011-04-19       Impact factor: 4.123

  5 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.