Literature DB >> 500092

Partial trisomy 4 resulting from a complex maternal rearrangement of chromosomes 2, 4, and 18 with interstitial translocation.

M G Mattei, J F Mattei, R Bernard, F Giraud.   

Abstract

A woman presented a complex chromosome rearrangement with translocation between chromosome 2 and 4 in addition to an insertion of the band 4q12 leads to q13 in the long arm of chromosome 18. The authors present a case study of the daughter who displayed the abnormal chromosome 18 and trisomy of band 4q12 leads to q13.

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Mesh：

Year:  1979        PMID： 500092     DOI： 10.1007/bf00278292

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


  14 in total

1.  [Crying cat disease associated with complex chromosome rearrangement in a dizygotic twin].

Authors:  J L Taillemite; G Baheux-Morlier; L Cathelineau; C Roux
Journal:  Ann Genet       Date:  1973-06

2.  "Cri du chat" syndrome with maternal insertional translocation.

Authors:  R Berger; G Touati; J Derre; M A Ortiz; J Martinetti
Journal:  Clin Genet       Date:  1974       Impact factor: 4.438

3.  Complex five-break rearrangement.

Authors:  M G Fitzgerald
Journal:  Clin Genet       Date:  1974-01       Impact factor: 4.438

4.  Partial trisomy 11 in a child resulting from a complex maternal rearrangement of chromosomes 11, 12 and 13.

Authors:  O Sanchez; J J Yunis; J I Escobar
Journal:  Humangenetik       Date:  1974-04-24

5.  [Trisomy for the distal part of the short arm of the number 3 chromosome in 3 siblings. First example of chromosomal insertion: INS(7;3)(q 31;p 21 p 26)].

Authors:  M O Rethoré; J Lejeune; S Carpentier; M Prieur; B Dutrillaux; P Seringe; A Rossier; J C Job
Journal:  Ann Genet       Date:  1972-09

6.  Presumptive direct insertion within chromosome 2 in man.

Authors:  A J Therkelsen; M Hultén; J Jonasson; J Lindsten; N C Christensen; T Iversen
Journal:  Ann Hum Genet       Date:  1973-04       Impact factor: 1.670

7.  A case of multople chromosomal rearrangements with persistence of foetal haemoglobin.

Authors:  F Nuzzo; A Marini; C Baglioni; C E Ford; L De Carli; L Piceni Sereni
Journal:  Cytogenetics       Date:  1968

8.  A chromosome No. 2 abnormality in a child with a few congenital defects.

Authors:  J I Escobar; D J Lakatua; B Streifel; N L Virnig; O Sanchez
Journal:  Clin Genet       Date:  1977-01       Impact factor: 4.438

9.  Familial mental retardation in a family with an inherited chromosome rearrangement.

Authors:  A E Chudley; F Bauder; M Ray; P J McAlpine; S D Pena; J L Hamerton
Journal:  J Med Genet       Date:  1974-12       Impact factor: 6.318

10.  Abnormal childhood phenotypes associated with the same balanced chromosome rearrangements as in the parents.

Authors:  S Ayme; M G Mattei; J F Mattei; F Giraud
Journal:  Hum Genet       Date:  1979-04-17       Impact factor: 4.132
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  3 in total

1.  Segregation of a complex rearrangement of chromosomes 6, 7, 8, and 12 through three generations.

Authors:  B Meer; G Wolff; E Back
Journal:  Hum Genet       Date:  1981       Impact factor: 4.132

2.  Prenatal diagnosis of de novo small supernumerary marker chromosome 4q (4q11-q12): A case report.

Authors:  Reza Mohammadi; Raheleh Taheri; Fatemeh Shahriyari; Farnaz Feiz; Zahra Mohammadi; Sadegh Shirian; Reza Raoofian; Abdorrasoul Malekpour; Reza Pazhoomand
Journal:  Int J Reprod Biomed       Date:  2021-06-23

Review 3.  A Case of Inherited t(4;10)(q26;q26.2) Chromosomal Translocation Elucidated by Multiple Chromosomal and Molecular Analyses. Case Report and Review of the Literature.

Authors:  Roxana Popescu; Mihaela Grămescu; Lavinia Caba; Monica-Cristina Pânzaru; Lăcrămioara Butnariu; Elena Braha; Setalia Popa; Cristina Rusu; Georgeta Cardos; Monica Zeleniuc; Violeta Martiniuc; Cristina Gug; Luminiţa Păduraru; Maria Stamatin; Carmen C Diaconu; Eusebiu Vlad Gorduza
Journal:  Genes (Basel)       Date:  2021-12-07       Impact factor: 4.096
  3 in total

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