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Literature DB >> 1084126

[Trisomy 11 q (q23.1 - qter) through maternal translocation t(11;22) (q23.1;q11.1). A new case].

N Ayraud, A Galiana, M Llyod, M Deswarte.

Abstract

A 4-year-old boy with partial trisomy 11q resulting from malsegregation of a maternal translocation, t(11;22)(q23.1;q11.1), exhibits the following malformations: severe mental deficiency; growth retardation and hypotonia; brachycephaly with flattened occiput and forehead; facial dysmorphia; pre-auricular fistula. These features are in good agreement with the syndrome recently described for partial trisomy 11q. The translocation appears to be identical in that in three other families already reported.

Entities: Disease Species

Mesh：

Year: 1976 PMID： 1084126

Source DB: PubMed Journal: Ann Genet ISSN： 0003-3995

Keyword Cloud
Cited

12 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. Scientific method and the Philadelphia chromosome.

Authors: P H Fitzgerald
Journal: Hum Genet Date: 1977-11-10 Impact factor: 4.132

Review 3. 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

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

[Trisomy 11 q (q23.1 - qter) through maternal translocation t(11;22) (q23.1;q11.1). A new case].

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

2. Scientific method and the Philadelphia chromosome.

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

4. The problem of partial trisomy 22 reconsidered.

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.

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

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

8. The aetiology of the cat eye syndrome reconsidered.

9. Systematic analysis of 95 reciprocal translocations of autosomes.

10. Partial 11q trisomy syndrome.