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Literature DB >> 852876

Partial deletion of the long arm of chromosome no. 13.

Abstract

A case of partial deletion of chromosome No. 13 identified by G banding as 46, XX, del(13)(q21--ater) is reported in an infant with severe microcephaly, microphthalmos, talipes calcaneovalus, and a single crease on each of the little fingers. A review of other cases of chromosome No. 13 deletion that were identified by banding is presented and the correlation between clinical features and deletion of specific bands is discusses.

Entities: Disease Species

Mesh：

Year: 1977 PMID： 852876 DOI： 10.1007/BF00446286

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

11 in total

1. Deletion of long arms of chromosome 13.

Authors: M Kucerovă; Z Polívková; M Pokorná
Journal: Humangenetik Date: 1975

2. Ring chromosome 13 in a polymalformed anencephalic.

Authors: W Schmid; J P Mühlethaler; J Briner; H Knechtli
Journal: Humangenetik Date: 1975

3. Ring chromosome D (13) associated with multiple congenital malformations.

Authors: E Niebuhr; J Ottosen
Journal: Ann Genet Date: 1973-09

4. Chromosome banding patterns in an infant with 13q minus syndrome.

Authors: T Ikeuchi; S Sonta; M Sasaki; M Hujita; K Tsunematsu
Journal: Humangenetik Date: 1974-03-28

5. A case of chromosome abnormality with 13q-.

Authors: Y Nomoto; F Miyaji; K Maeda; Y Nakayama; S Shike
Journal: Jinrui Idengaku Zasshi Date: 1974-06

6. [A new syndrome caused by deletion of a part of a chromosome (13 q-). Case descriptions and compilation of symptoms (author's transl)].

Authors: K P Grosse; G Schwanitz
Journal: Klin Padiatr Date: 1973-11 Impact factor: 1.349

7. The syndrome associated with the partial D-monosomy. Case report and review.

Authors: D J Orbeli; I W Lurie; J L Goroshenko
Journal: Humangenetik Date: 1971

8. [The Dr phenotype: a study of threee cases with a ring D chromosome].

Authors: J Lejeune; J Lafourcade; R Berger; J Cruveiller; M O Rethoré; B Dutrillaux; D Abonyi; H Jérôme
Journal: Ann Genet Date: 1968-06

9. The 13q-deletion syndrome.

Authors: P W Allderdice; J G Davis; O J Miller; H P Klinger; D Warburton; D A Miller; F H Allen; C A Abrams; E McGilvray
Journal: Am J Hum Genet Date: 1969-09 Impact factor: 11.025

10. Leukocytes cultured from small inocula of whole blood and the preparation of metaphase chromosomes by treatment with hypotonic KCl.

Authors: D A Hungerford
Journal: Stain Technol Date: 1965-11

6 in total

Partial deletion of the long arm of chromosome no. 13.

1. Deletion of long arms of chromosome 13.

2. Ring chromosome 13 in a polymalformed anencephalic.

3. Ring chromosome D (13) associated with multiple congenital malformations.

4. Chromosome banding patterns in an infant with 13q minus syndrome.

5. A case of chromosome abnormality with 13q-.

6. [A new syndrome caused by deletion of a part of a chromosome (13 q-). Case descriptions and compilation of symptoms (author's transl)].

7. The syndrome associated with the partial D-monosomy. Case report and review.

8. [The Dr phenotype: a study of threee cases with a ring D chromosome].

9. The 13q-deletion syndrome.

10. Leukocytes cultured from small inocula of whole blood and the preparation of metaphase chromosomes by treatment with hypotonic KCl.

1. Interstitial deletion of chromosome 13 and associated congenital anomalies.

2. Retinoblastoma and partial deletion of the long arm of chromosome 13.

3. Deletion of band 13q21 is compatible with normal phenotype.

4. Trisomy 13 in a 4-year-old child.

5. The ring chromosome 13 syndrome.

6. Multiple skeletal anomalies in the "13q-" syndrome.