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Literature DB >> 1176125

[Partial trisomy 11q and familial translocation 11--22 (author's transl)].

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

Abstract

By heat denaturation, a reciprocal translocation was found in the mother of two malformed sibs. In her 46,XX,t(11 ;22)(q23 ;q11) caryotype, the rearranged elements exhibit no change of length. The 2 sibs are trisomic for the distal part of the long arm of chromosome 11.

Mesh：

Year: 1975 PMID： 1176125

Source DB: PubMed Journal: Humangenetik ISSN： 0018-7348

9 in total

1. 47, XY, t(9pplus;11qplus) in a mlae infant with multiple malformations.

Authors: N D Dinno; G L Silvey; B Weisskopf
Journal: Clin Genet Date: 1974 Impact factor: 4.438

2. Craniorachischisis in a partially trisomic 11 fetus in a family with reproductive failure and a reciprocal translocation, t(6p plus;11q minus).

Authors: Y M Wright; W E Clark; W R Breg
Journal: J Med Genet Date: 1974-03 Impact factor: 6.318

3. [A new technic of analysis of the human karyotype].

Authors: B Dutrillaux; J Lejeune
Journal: C R Acad Hebd Seances Acad Sci D Date: 1971-05-17

4. A case with 46, XX, del (11) (q21).

Authors: J Faust; W Vogel; B Löning
Journal: Clin Genet Date: 1974 Impact factor: 4.438

5. [Partial trisomy 11q identified by study, with heat controlled denaturation, of the paternal balanced translocation].

Authors: J Tusques; J R Grislain; M J André; R Mainard; J M Rival; J L Cadudal; B Dutrillaux; J Lejeune
Journal: Ann Genet Date: 1972-09

6. C 11-D 13-translocation in four generations.

Authors: H D Rott; G Schwanitz; K P Grosse; G Alexandrow
Journal: Humangenetik Date: 1972

7. Quinacrine mustard fluorescence of human chromosomes: characterization of unusual translocations.

Authors: U Francke
Journal: Am J Hum Genet Date: 1972-03 Impact factor: 11.025

8. [Translocation 8-22 with no length change and partial trisomy for 8q. Detection by heat denaturation].

Authors: J Lejeune; M O Rethore; B Dutrillaux; G Martin
Journal: Exp Cell Res Date: 1972-09 Impact factor: 3.905

9. [4 cases of trisomy for the short arm of chromosome 9. Individualization of a new morbid entity].

Authors: M O Rethoré; L Larget-Piet; D Abonyi; M Boeswillwald; R Berger; S Carpentier; J Cruveiller; B Dutrillau; J Lafourcade; M Penneau; J Lejeune
Journal: Ann Genet Date: 1970-12

9 in total

10 in total

1. 47,XY,+der(11;22)(q23;q12) following balanced translocation t(11;22)(q23;q12)mat. Remarks on the problem of trisomy 22.

Authors: E Kessel; R A Pfeiffer
Journal: Hum Genet Date: 1977-06-10 Impact factor: 4.132

2. The problem of partial trisomy 22 reconsidered.

Authors: G M Feldman; R S Sparkes
Journal: Hum Genet Date: 1978-11-24 Impact factor: 4.132

3. Incomplete trisomy 22. I. Familial 11/22 translocation with 3:1 meiotic disjunction. Delineation of a common clinical picture and report of nine new cases from six families.

Authors: A Schinzel; W Schmid; P Auf der Maur; H Moser; K H Degenhardt; M Geisler; A Grubisic
Journal: Hum Genet Date: 1981 Impact factor: 4.132

4. 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

5. The aetiology of the cat eye syndrome reconsidered.

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

6. Phenotypic delineation of Emanuel syndrome (supernumerary derivative 22 syndrome): Clinical features of 63 individuals.

Authors: Melissa T Carter; Stephanie A St Pierre; Elaine H Zackai; Beverly S Emanuel; Kym M Boycott
Journal: Am J Med Genet A Date: 2009-08 Impact factor: 2.802