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Literature DB >> 881189

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

Abstract

Report of a supernumerary extra chromosome der(11;22)(q23;q12) resulting from a balanced translocation in the mother. The propositus suffers from mental deficiency, deafness and extreme muscular weakness and exhibits cleft palate, a labial lymphangioma and an atrial septum defect. Since the features of partial trisomy 11q23 frequently associated with a translocation t(11q;22q) bear similarities with the cases of so called trisomy 22 one might conjecture that some of these observations are in fact products of translocations including partial 11q.

Entities: Disease

Mesh：

Year: 1977 PMID： 881189 DOI： 10.1007/bf00293781

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

26 in total

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

Authors: F Giraud; J F Mattei; M G Mattei; R Bernard
Journal: Humangenetik Date: 1975-08-25

2. Balanced translocation, impaired sperm motility, and offspring anomaly.

Authors: J R Oakley; P Else; P Asplin; L S Taitz
Journal: Arch Dis Child Date: 1976-08 Impact factor: 3.791

3. 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

4. Banding analysis of abnormal karyotypes in spontaneous abortion.

Authors: T Kajii; K Oama; N Niikawa; A Ferrier; S Avirachan
Journal: Am J Hum Genet Date: 1973-09 Impact factor: 11.025

5. 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

6. Cat-eye syndrome, a partial trisomy 22.

Authors: E M Bühler; K Méhes; H Müller; G R Stalder
Journal: Humangenetik Date: 1972

7. The problem of trisomy 22. A case report and a discussion of the variant forms.

Authors: H Zellweger; V Ionasescu; J Simpson; L Burmeister
Journal: Clin Pediatr (Phila) Date: 1976-07 Impact factor: 1.168

8. Letter: Confirmation of trisomy 22 with fluorescence banding.

Authors: I A Uchida; E M Byrnes
Journal: Am J Hum Genet Date: 1976-03 Impact factor: 11.025

9. [Trisomy 11q. Individualization of a new syndrome].

Authors: A Aurias; C Laurent
Journal: Ann Genet Date: 1975-09

10. Quinacrine fluorescence and Giemsa banding in trisomy 22.

Authors: H H Punnett; M L Kistenmacher; M A Toro-Sola; G Kohn
Journal: Theor Appl Genet Date: 1973-01 Impact factor: 5.699

12 in total

1. Regional localization and molecular characterization of a DNA sequence on the long arm of chromosome 22.

Authors: E Göttert; R Metzdorf; U Färber; N Blin
Journal: Hum Genet Date: 1989-03 Impact factor: 4.132

Review 2. 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

3. Partial trisomy of 11 and 22 due to familial translocation t(11;22)(q23;q11), inherited in three generations.

Authors: H Nakai; Y Yamamoto; Y Kuroki
Journal: Hum Genet Date: 1979-10-02 Impact factor: 4.132

4. 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

5. 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

6. 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

7. The 11q;22q translocation: a European collaborative analysis of 43 cases.

Authors: M Fraccaro; J Lindsten; C E Ford; L Iselius
Journal: Hum Genet Date: 1980 Impact factor: 4.132

8. The aetiology of the cat eye syndrome reconsidered.

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

9. 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

10. Systematic analysis of 95 reciprocal translocations of autosomes.

Authors: A Aurias; M Prieur; B Dutrillaux; J Lejeune
Journal: Hum Genet Date: 1978-12-29 Impact factor: 4.132