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Literature DB >> 49288

Familial inversion of chromosome No. 8: an affected child and a carrier fetus.

Abstract

An infant with multiple congenital anomalies was found to have a duplication-deficiency disorder involving chromosome No. 8. The abnormality was identified as an unbalanced recombinant inherited from the mother who was a carrier of a pericentric inversion of chromosome No. 8. The inversion was observed in several members of this family, including a fetus who was diagnosed by an amniocentesis. The inverted chromosome was demonstrated only with the use of a differential staining technique, in this case, by trypsin-Giemsa banding.

Entities: Disease Species

Mesh：

Year: 1975 PMID： 49288

Source DB: PubMed Journal: Humangenetik ISSN： 0018-7348

21 in total

1. Double autosomal trisomy and mosaicism for chromosomes no. 8 and no. 21.

Authors: M G Wilson; A Fujimoto; O S Alfi
Journal: J Med Genet Date: 1974-03 Impact factor: 6.318

2. Trisomy 8.

Authors: L Atkins; L B Holmes; V M Riccardi
Journal: J Pediatr Date: 1974-02 Impact factor: 4.406

3. Inherited pericentric inversion of chromosome 5: a family with history of neonatal death and a case of the "cri du chat" syndrome.

Authors: M J Faed; V J Marrian; J Robertson; E B Robson; P J Cook
Journal: Cytogenetics Date: 1972

4. Pericentric inversion of chromosome 9.

Authors: D E Mutton; M G Daker
Journal: Nat New Biol Date: 1973-01-17

5. Down's syndrome with an atypical G-G translocation derived from familial pericentric inversion in one chromosome of the G group.

Authors: S Morić-Petrović; Z Laća; P Kalicanin
Journal: J Med Genet Date: 1972-12 Impact factor: 6.318

6. [Pericentric inversion, inv(10), in a mother and aneusomy by recombination, inv(10), rec(10), in her son (author's transl)].

Authors: B Dutrillaux; C Laurent; J M Robert; J Lejeune
Journal: Cytogenet Cell Genet Date: 1973

7. Genetic risk for recombinant 8 syndrome and the transmission rate of balanced inversion 8 in the Hispanic population of the southwestern United States.

Authors: A C Smith; K Spuhler; T M Williams; T McConnell; E Sujansky; A Robinson
Journal: Am J Hum Genet Date: 1987-12 Impact factor: 11.025

Familial inversion of chromosome No. 8: an affected child and a carrier fetus.

1. Double autosomal trisomy and mosaicism for chromosomes no. 8 and no. 21.

2. Trisomy 8.

3. Inherited pericentric inversion of chromosome 5: a family with history of neonatal death and a case of the "cri du chat" syndrome.

4. Pericentric inversion of chromosome 9.

5. Down's syndrome with an atypical G-G translocation derived from familial pericentric inversion in one chromosome of the G group.

6. [Pericentric inversion, inv(10), in a mother and aneusomy by recombination, inv(10), rec(10), in her son (author's transl)].

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

8. Patau's syndrome with D 1 duplication-deficenncy derived from a maternal D group pericentric inversion.

9. Inherited pericentric inversion of chromosome number two: a linkage study.

10. Pericentric inversion of a group C autosome: a study of three families.

1. Cloning, sequencing, and analysis of inv8 chromosome breakpoints associated with recombinant 8 syndrome.

2. Review of radiologic and clinical findings in the recombinant 8 syndrome.

3. A large pericentric inversion of human chromosome 8.

4. Partial trisomy 8q in half-sisters with distinct dysmorphic patterns not similar to the trisomy 8 mosaicism syndrome.

5. Deletion of the long arm of chromosome 8 resulting from a de novo translocation t(4;8) (q13;q213).

6. Small structural changes of chromosome 8. Two cases with evidence for deletion.

7. Genetic risk for recombinant 8 syndrome and the transmission rate of balanced inversion 8 in the Hispanic population of the southwestern United States.

8. Karyotype-phenotype correlation: mosaic trisomy 8 and partial trisomies of different segments of chromosome 8.

Review 9. Pericentric inversions. Problems and significance for clinical genetics.

10. Duplication deficiency as the result of meiotic segregation of a maternal InV (10).