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Literature DB >> 926139

'Complete 5p' trisomy: 1 case and 19 translocation carriers in 6 generations.

Abstract

A description is given of a female infant with multiple malformations and mental retardation who died at 31 months. Cytogenetic studies indicate trisomy of the complete short arm of chromosome 5, resulting from the unbalanced segregation of a balanced translocation in the mother whose karyotype was interpreted as 46,XX,t(5; 15)(p11; p12). The karyotype of the proband was designated 46,XX, der(5)t(5; 15)(p11; p12)mat. Family studies indicate that the translocation has been present in the family for at least 6 generations.

Entities: Disease Gene Species

Mesh：

Year: 1977 PMID： 926139 PMCID： PMC1013582 DOI： 10.1136/jmg.14.4.271

Source DB: PubMed Journal: J Med Genet ISSN： 0022-2593 Impact factor: 6.318

8 in total

1. [FAMILIAL SEGREGATION OF A 5-13 TRANSLOCATION DETERMINING PARTIAL MONOSOMY AND A TRISOMY OF THE SHORT ARM OF THE 5 CHROMOSOME: "CAT CRY" DISEASE AND ITS "RECEPROCAL"].

Authors: J LEJEUNE; J LAFOURCADE; R BERGER; R TURPIN
Journal: C R Hebd Seances Acad Sci Date: 1964-06-08

2. A 4-5/21-22 CHROMOSOMAL TRANSLOCATION ASSOCIATED WITH MULTIPLE CONGENITAL ANOMALIES.

Authors: K H GUSTAVSON; S C FINLEY; W H FINLEY; B JALLING
Journal: Acta Paediatr Date: 1964-03 Impact factor: 2.299

3. A family with an inherited translocation involving the no. 4/no. 21 chromosomes.

Authors: J M Darmady; M Seabright
Journal: J Med Genet Date: 1975-12 Impact factor: 6.318

4. Multiple congenital defects associated with trisomy for the short arm of chromosome 4.

Authors: L Owen; B Martin; C E Blank; F Harris
Journal: J Med Genet Date: 1974-09 Impact factor: 6.318

5. [Partial trisomy for the short arm of chromosome 4 with translocation 4p-,18q+ in the father].

Authors: A Schinzel; W Schmid
Journal: Humangenetik Date: 1972

6. [Segregation of a balanced translocation t(5p-;Gp+)].

Authors: B Noel; B Quack; M Thiriet
Journal: Ann Genet Date: 1968-12

7. Translocation heterozygosis: a cause of five cases of the cri du chat syndrome and two cases with a duplication of chromosome number five in three families.

Authors: A De Capoa; D Warburton; W R Breg; D A Miller; O J Miller
Journal: Am J Hum Genet Date: 1967-07 Impact factor: 11.025

8. [Genetic and clinical study of a family of 7 children in which 3 persons have "crying cat syndrome"].

Authors: C Laurent; J M Robert
Journal: Ann Genet Date: 1966-09

8 in total

9 in total

1. Partial 5p monosomy or trisomy in 11 patients from a family with a t(5;15)(p13.3;p12) translocation.

Authors: Acácia Fernandes Lacerda de Carvalho; Fernanda Teixeira da Silva Bellucco; Leslie Domenici Kulikowski; Maria Betânia Pereira Toralles; Maria Isabel Melaragno
Journal: Hum Genet Date: 2008-09-07 Impact factor: 4.132

2. "Complete" trisomy 5p; de novo translocation t(2;5)(q36;p11) with isochromosome 5p. Case report and review of the literature.

Authors: N J Leschot; K S Lim
Journal: Hum Genet Date: 1979-02-15 Impact factor: 4.132

'Complete 5p' trisomy: 1 case and 19 translocation carriers in 6 generations.

1. [FAMILIAL SEGREGATION OF A 5-13 TRANSLOCATION DETERMINING PARTIAL MONOSOMY AND A TRISOMY OF THE SHORT ARM OF THE 5 CHROMOSOME: "CAT CRY" DISEASE AND ITS "RECEPROCAL"].

2. A 4-5/21-22 CHROMOSOMAL TRANSLOCATION ASSOCIATED WITH MULTIPLE CONGENITAL ANOMALIES.

3. A family with an inherited translocation involving the no. 4/no. 21 chromosomes.

4. Multiple congenital defects associated with trisomy for the short arm of chromosome 4.

5. [Partial trisomy for the short arm of chromosome 4 with translocation 4p-,18q+ in the father].

6. [Segregation of a balanced translocation t(5p-;Gp+)].

7. Translocation heterozygosis: a cause of five cases of the cri du chat syndrome and two cases with a duplication of chromosome number five in three families.

8. [Genetic and clinical study of a family of 7 children in which 3 persons have "crying cat syndrome"].

1. Partial 5p monosomy or trisomy in 11 patients from a family with a t(5;15)(p13.3;p12) translocation.

2. "Complete" trisomy 5p; de novo translocation t(2;5)(q36;p11) with isochromosome 5p. Case report and review of the literature.

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

4. Trisomy 5p syndrome.

Review 5. Absence makes the search grow longer.

6. Trisomy 5p: a second case occurring in a previously described kindred.

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

8. Pure partial trisomy of the short arm of chromosome 5.

Review 9. Chromosome 15 anomalies and the Prader-Willi syndrome: cytogenetic analysis.