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Literature DB >> 1270083

[A girl with a deletion (2) (q34q36): cytogenetic and clinical observations (author's transl)].

Abstract

We describe a case of (2) (q34;q36) deletion in a girl. The main clinical features of the proband are staturo-ponderal retardation, skull-face dysmorphia and an interauricular communication. The relationship between morphological and chromosomal abnormalities is discussed.

Entities: Disease Species

Mesh：

Year: 1976 PMID： 1270083 DOI： 10.1007/BF00291510

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

3 in total

1. The use of proteolytic enzymes for the mapping of structural rearrangements in the chromosomes of man.

Authors: M Seabright
Journal: Chromosoma Date: 1972 Impact factor: 4.316

2. MN blood-group locus: data concerning the possible chromosomal location.

Authors: J German; M E Walker; F H Stiefel; F H Allen
Journal: Science Date: 1968-11-29 Impact factor: 47.728

3. Mapping human autosomes: assignment of the MN locus to a specific segment in the long arm of chromosome no. 2.

Authors: J German; R S Chaganti
Journal: Science Date: 1973-12-21 Impact factor: 47.728

3 in total

12 in total

1. Interstitial deletion of 2(q33q36) in a child with congenital abnormalities.

Authors: J L Gorski; M Kiyne; W Uhlmann; K Loeffler; T W Glover
Journal: J Med Genet Date: 1989-03 Impact factor: 6.318

2. Unbalanced translocation between chromosomes 2 and 7 with de novo deletion of band 35 on the long arm of chromosome 2.

Authors: P E Lundbech; T Thøgersen
Journal: Hum Genet Date: 1989-04 Impact factor: 4.132

3. Interstitial deletion of chromosome 2.

Authors: S Marković; M Krstić; V Sulović; Z Radojković; S Adzić
Journal: J Med Genet Date: 1985-04 Impact factor: 6.318

4. Interstitial deletion of the short arm of chromosome 2 in a moderately mentally retarded boy without gross clinical stigmata.

Authors: J P Fryns; P De Waele; H Van Den Berghe
Journal: Hum Genet Date: 1979-10-01 Impact factor: 4.132

[A girl with a deletion (2) (q34q36): cytogenetic and clinical observations (author's transl)].

1. The use of proteolytic enzymes for the mapping of structural rearrangements in the chromosomes of man.

2. MN blood-group locus: data concerning the possible chromosomal location.

3. Mapping human autosomes: assignment of the MN locus to a specific segment in the long arm of chromosome no. 2.

1. Interstitial deletion of 2(q33q36) in a child with congenital abnormalities.

2. Unbalanced translocation between chromosomes 2 and 7 with de novo deletion of band 35 on the long arm of chromosome 2.

3. Interstitial deletion of chromosome 2.

4. Interstitial deletion of the short arm of chromosome 2 in a moderately mentally retarded boy without gross clinical stigmata.

5. A case of deletion 2q35----qter and a peculiar phenotype.

6. Interstitial deletion of the long arm of chromosome 2: del(2)(q31q33).

7. Interstitial deletion (2)(p13p15).

8. Interstitial deletion of the long arm of chromosome 2 in a polymalformed newborn--karyotype: 46,XX,del(2)(q21;q24).

9. Mouse and hamster mutants as models for Waardenburg syndromes in humans.

10. Deletion 2q: two new cases with karyotypes 46,XY,del(2)(q31q33) and 46,XX,del(2)(q36).