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Literature DB >> 711237

Partial deletion of 4p16 band in a ring chromosome and Wolf Syndrome.

J del Mazo, J A Abrisqueta, A Pérez-Castillo, V Aller, M A Lucas, M L de Torres, M J Martín.

Abstract

A new case of ring chromosome 4 in a 2-day-old female child with multiple malformations is described. By means of the GTG-banding technique, a karyotype 46,XX,r(4), (p16 leads to q35) was determined. The characteristics of the child's karyotype and the relationship with the structure of the chromosome, especially the location of the deletion that produces the syndrome, are compared with previous reports.

Entities: Disease Gene Species

Mesh：

Year: 1978 PMID： 711237 DOI： 10.1007/bf00283580

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

9 in total

1. Derivative chromosomal structures from a ring chromsome 4.

Authors: R Niss; E Passarge
Journal: Humangenetik Date: 1975-05-26

2. Ring chromosome 4.

Authors: A McDermott; M A Voyce; D Romain
Journal: J Med Genet Date: 1977-06 Impact factor: 6.318

3. Ring chromosome 4 and Wolf syndrome.

Authors: A Pérez-Castillo; J A Abrisqueta
Journal: Hum Genet Date: 1977-06-10 Impact factor: 4.132

4. [Ring of the chromosome 4. I - With 4p- phenotype].

Authors: J Fraisse; B Lauras; J Couturier; F Freycon
Journal: Ann Genet Date: 1977-06

5. [Ring of the chromosome 4. II. Without facial dysmorphism].

Authors: F Chavin-Colin; C Turleau; J M Limal; J de Grouchy
Journal: Ann Genet Date: 1977-06

6. A rapid banding technique for human chromosomes.

Authors: M Seabright
Journal: Lancet Date: 1971-10-30 Impact factor: 79.321

7. Deletion of short arms of chromosome 4-5 in a child with defects of midline fusion.

Authors: K Hirschhorn; H L Cooper; I L Firschein
Journal: Humangenetik Date: 1965

8. [Deficiency on the short arms of a chromosome No. 4].

Authors: U Wolf; H Reinwein; R Porsch; R Schröter; H Baitsch
Journal: Humangenetik Date: 1965

9. Human chromosomal deletion: two patients with the 4p- syndrome.

Authors: D Arias; E Passarge; M A Engle; J German
Journal: J Pediatr Date: 1970-01 Impact factor: 4.406

9 in total

5 in total

Partial deletion of 4p16 band in a ring chromosome and Wolf Syndrome.

1. Derivative chromosomal structures from a ring chromsome 4.

2. Ring chromosome 4.

3. Ring chromosome 4 and Wolf syndrome.

4. [Ring of the chromosome 4. I - With 4p- phenotype].

5. [Ring of the chromosome 4. II. Without facial dysmorphism].

6. A rapid banding technique for human chromosomes.

7. Deletion of short arms of chromosome 4-5 in a child with defects of midline fusion.

8. [Deficiency on the short arms of a chromosome No. 4].

9. Human chromosomal deletion: two patients with the 4p- syndrome.

Review 1. Toward the complete genomic map and molecular pathology of human chromosome 4.

Review 2. Distribution of break points in human structural rearrangements.

3. Genetic and clinical studies in 13 patients with the Wolf-Hirschhorn syndrome [del(4p)].

4. Ring Chromosome 4 in a Child with Multiple Congenital Abnormalities: A Case Report and Review of the Literature.

5. Clinical, cytogenetic, and molecular findings in a patient with ring chromosome 4: case report and literature review.