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Literature DB >> 6512838

Interstitial deletion of the short arm of chromosome 5 in a mother and three children.

Abstract

An interstitial deletion (5) (p13p15.1) was found in a mentally retarded woman and three of her four children. The variable manifestation of this chromosomal defect and the relevance of this particular deletion to the cri du chat syndrome are discussed. To our knowledge the only other reported case of inherited 5p deletion from an affected parent involved the terminal segment of the 5p15.3 band.

Entities: Disease Species

Mesh：

Year: 1984 PMID： 6512838 PMCID： PMC1049350 DOI： 10.1136/jmg.21.6.465

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

6 in total

1. [3 CASES OF PARTIAL DELETION OF THE SHORT ARM OF A 5 CHROMOSOME].

Authors: J LEJEUNE; J LAFOURCADE; R BERGER; J VIALATTE; M BOESWILLWALD; P SERINGE; R TURPIN
Journal: C R Hebd Seances Acad Sci Date: 1963-11-18

2. [Chromosome delection point in "cri du chat" syndrome (author's transl)].

Authors: F Prieto García; L Badía Garrabou; G Abeledo Mezquita; V Amigo García; M L Marty García
Journal: An Esp Pediatr Date: 1976 Mar-Apr

3. Facial appearance in cri du chat syndrome.

Authors: R R Gordon; P Cooke
Journal: Dev Med Child Neurol Date: 1968-02 Impact factor: 5.449

4. The cri du chat syndrome in adolescents and adults: clinical finding in 13 older patients with partial deletion of the short arm of chromosome No. 5(5p-).

Authors: W R Breg; M W Steele; O J Miller; D Warburton; A DeCapoa; P W Allderdice
Journal: J Pediatr Date: 1970-11 Impact factor: 4.406

5. Cytologic observations in 35 individuals with a 5p- karyotype.

Authors: E Niebuhr
Journal: Hum Genet Date: 1978-06-09 Impact factor: 4.132

Review 6. The Cri du Chat syndrome: epidemiology, cytogenetics, and clinical features.

Authors: E Niebuhr
Journal: Hum Genet Date: 1978-11-16 Impact factor: 4.132

6 in total

8 in total

1. Trisomy 2q11.2-->q21.1 resulting from an unbalanced insertion in two generations.

Authors: I A Glass; P Stormer; P T Oei; E Hacking; P D Cotter
Journal: J Med Genet Date: 1998-04 Impact factor: 6.318

Review 2. Simultaneous trisomy 9q3 and monosomy 5p in two children with der(5),t(5;9)(p15.1;q34.13): report of an extended family.

Authors: D Wellesley; I D Young; P Cooke; D F Callen; A Hockey
Journal: J Med Genet Date: 1988-10 Impact factor: 6.318

Interstitial deletion of the short arm of chromosome 5 in a mother and three children.

1. [3 CASES OF PARTIAL DELETION OF THE SHORT ARM OF A 5 CHROMOSOME].

2. [Chromosome delection point in "cri du chat" syndrome (author's transl)].

3. Facial appearance in cri du chat syndrome.

4. The cri du chat syndrome in adolescents and adults: clinical finding in 13 older patients with partial deletion of the short arm of chromosome No. 5(5p-).

5. Cytologic observations in 35 individuals with a 5p- karyotype.

Review 6. The Cri du Chat syndrome: epidemiology, cytogenetics, and clinical features.

1. Trisomy 2q11.2-->q21.1 resulting from an unbalanced insertion in two generations.

Review 2. Simultaneous trisomy 9q3 and monosomy 5p in two children with der(5),t(5;9)(p15.1;q34.13): report of an extended family.

3. A fine structure physical map of the short arm of chromosome 5.

4. De novo 15.5-Mb Interstitial Deletion in 5p in a Male Ascertained by Oligospermia.

5. Interstitial deletion, del(4)(q33q35.1), in a mother and two children.

Review 6. Directly transmitted unbalanced chromosome abnormalities and euchromatic variants.

7. Evidence for a distinct region causing a cat-like cry in patients with 5p deletions.

Review 8. 5p deletions: Current knowledge and future directions.