Literature DB >> 881200

Familial t(X;2) (p223;q323) with partial trisomy 2q and male and female balanced carriers.

C Turleau, F Chavin-Colin, J de Grouchy, G Repessé, P Beauvais.   

Abstract

A familial t(X;2) (p223;q323) is responsible for partial trisomy 2q in the proposita, a 3-year-old girl with severe mental retardation and hypotrophia. It is present in the balanced state in the mother, two daughters, and one son. X-replication was studied after BUDR incroporation and acridine orange staining. The reproductive impairment of balanced X/autosome translocations is discussed.

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Mesh：

Year:  1977        PMID： 881200     DOI： 10.1007/bf00293779

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


  12 in total

1.  Aspermia, associated with a presumably balanced X/autosomal translocation karyotype 46, Y, t (X;5) (q28;q11).

Authors:  S Stengel-Rutkowski; H Zankl; A Rodewald; S Scharrer; J P Chaudhuri; K D Zang
Journal:  Hum Genet       Date:  1976-01-28       Impact factor: 4.132

2.  [Familial balanced translocation t(2; 13) (q32; q33) and partial trisomy 2q].

Authors:  A Forabosco; B Dutrillaux; G Toni; G Tamborino; G Cavazzuti
Journal:  Ann Genet       Date:  1973-12

3.  X-autosome translocation in normal mother and effectively 21-monosomic daughter.

Authors:  R L Summitt; P R Martens; R S Wilroy
Journal:  J Pediatr       Date:  1974-04       Impact factor: 4.406

4.  An inherited X-autosome translocation in man.

Authors:  K E Buckton; P A Jacobs; L A Rae; M S Newton; R Sanger
Journal:  Ann Hum Genet       Date:  1971-10       Impact factor: 1.670

5.  [Partial trisomy for the long arm of chromosome 2 due to malsegregation of a maternal insertion : ins(6;2)(p22;q24q34)].

Authors:  J Couturier; A Aurias; M Prieur; A Barois
Journal:  Ann Genet       Date:  1977-03

6.  [X-chromosome translocations. Examination based on treatment with BUDR and staining with acridine orange].

Authors:  B Dutrillaux; C Laurent; S Gilgenkrantz; J Frédéric; S Carpentier; J Couturier; J Lejeune
Journal:  Helv Paediatr Acta       Date:  1974

7.  A familial X-22 translocation with an extra X chromosome.

Authors:  M B Jenkins; E Davis; T H Thelen; L Boyd
Journal:  Am J Hum Genet       Date:  1974-11       Impact factor: 11.025

8.  [Sterility and familial t (1q-;Xq+) translocation].

Authors:  B Dutrillaux; J Couturier; J Rotman; J Salat; J Lejeune
Journal:  C R Acad Hebd Seances Acad Sci D       Date:  1972-06-12

9.  Partial trisomy 2q and familial translocation t(2;12)(q31;q24).

Authors:  B Zabel; S Hansen; W Hartmann
Journal:  Hum Genet       Date:  1976-04-15       Impact factor: 4.132

10.  Human X-autosome translocations: differential inactivation of the X chromosome in a kindred with an X-9 translocation.

Authors:  J T Leisti; M M Kaback; D L Rimoin
Journal:  Am J Hum Genet       Date:  1975-07       Impact factor: 11.025
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  22 in total

1.  Evidence for a correlation between late replication and autosomal gene inactivation in a familial translocation t(X;21).

Authors:  J Couturier; B Dutrillaux; P Garber; O Raoul; M F Croquette; J C Fourlinnie; E Maillard
Journal:  Hum Genet       Date:  1979-07-18       Impact factor: 4.132

Review 2.  The critical region on the human Xq.

Authors:  E Therman; R Laxova; B Susman
Journal:  Hum Genet       Date:  1990-10       Impact factor: 4.132

3.  Characterization of a set of X-linked sequences and of a panel of somatic cell hybrids useful for the regional mapping of the human X chromosome.

Authors:  I Oberlé; G Camerino; C Kloepfer; J P Moisan; K H Grzeschik; B Hellkuhl; M C Hors-Cayla; N Van Cong; D Weil; J L Mandel
Journal:  Hum Genet       Date:  1986-01       Impact factor: 4.132

4.  Abnormal chromosome complement resulting from a familial inversion of chromosome 2.

Authors:  S Richter; B Lockwood; D Lockwood; J Allanson
Journal:  J Med Genet       Date:  1989-11       Impact factor: 6.318

Review 5.  Factors predisposing to adjacent 2 and 3:1 disjunctions: study of 161 human reciprocal translocations.

Authors:  P Jalbert; B Sele
Journal:  J Med Genet       Date:  1979-12       Impact factor: 6.318

6.  DNA replication and inactivation patterns in structural abnormality of sex chromosomes. I.X-A translocations, rings, fragments, isochromosomes, and pseudo-isodicentrics.

Authors:  M Camargo; J Cervenka
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132

7.  Partial trisomy 14 (q23 leads to qter) via segregation of a 14/X translocation.

Authors:  M M Cohen; J Charrow; N E Balkin; C J Harris
Journal:  Am J Hum Genet       Date:  1983-07       Impact factor: 11.025

8.  A DNA fragment from the human X chromosome short arm which detects a partially homologous sequence on the Y chromosomes long arm.

Authors:  M Koenig; G Camerino; R Heilig; J L Mandel
Journal:  Nucleic Acids Res       Date:  1984-05-25       Impact factor: 16.971

9.  X-autosome translocations: cytogenetic characteristics and their consequences.

Authors:  M G Mattei; J F Mattei; S Ayme; F Giraud
Journal:  Hum Genet       Date:  1982       Impact factor: 4.132

10.  Translocation (X;6) in a female with Duchenne muscular dystrophy: implications for the localisation of the DMD locus.

Authors:  M Zatz; A M Vianna-Morgante; P Campos; A J Diament
Journal:  J Med Genet       Date:  1981-12       Impact factor: 6.318
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