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Literature DB >> 233959

Inversion homozygosity of chromosome no. 9 in a higly inbred kindred.

Abstract

A pericentric inversion of chromosome no. 9 was present in seven of 10 members of a highly inbred kindred investigated; two were inversion homozygotes and five were heterozygotes. Inversion homozygosity was observed in both the propositus, ascertained because of ambiguous genitalia, and his phenotypically normal father. A phenotypically normal sister and brother with similar clinical findings proved to be inversion heterozygotes. These findings conclude that no causal relationship exists between the inversion and the abnormal phenotype.

Entities: Disease

Mesh：

Year: 1976 PMID： 233959 PMCID： PMC1685013

Source DB: PubMed Journal: Am J Hum Genet ISSN： 0002-9297 Impact factor: 11.025

7 in total

1. Chromosome polymorphism in American Negro and White populations.

Authors: H A Lubs; F H Ruddle
Journal: Nature Date: 1971-09-10 Impact factor: 49.962

2. Structural variation in chromosome No 9.

Authors: K Madan; M Bobrow
Journal: Ann Genet Date: 1974-06

3. A simple technique for demonstrating centromeric heterochromatin.

Authors: A T Sumner
Journal: Exp Cell Res Date: 1972-11 Impact factor: 3.905

4. Identification of each human chromosome with a modified Giemsa stain.

Authors: S R Patil; S Merrick; H A Lubs
Journal: Science Date: 1971-08-27 Impact factor: 47.728

5. Pericentric inversions of chromosome 9 in two families.

Authors: J Wahrman; J Atidia; R Goitein; T Cohen
Journal: Cytogenetics Date: 1972

6. An inherited pericentric chromosomal inversion (46, inv3 (p-q+)) associated with skeletal anomalies.

Authors: M M Cohen; R G Davidson
Journal: J Pediatr Date: 1971-09 Impact factor: 4.406

7. Pericentric inversions of human chromosomes 9 and 10.

Authors: A de la Chapelle; J Schröder; K Stenstrand; J Fellman; R Herva; M Saarni; I Anttolainen; I Tallila; L Tervilä; L Husa; G Tallqvist; E B Robson; P J Cook; R Sanger
Journal: Am J Hum Genet Date: 1974-11 Impact factor: 11.025

7 in total

11 in total

1. Pericentric inversion in homologues of chromosome 9.

Authors: T Sudha; S Jayam
Journal: Indian J Pediatr Date: 1992 Nov-Dec Impact factor: 1.967

2. A closer look at chromosomal inversions.

Authors: P S Moorhead
Journal: Am J Hum Genet Date: 1976-05 Impact factor: 11.025

3. 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

10. Minor chromosome variations and selected heteromorphisms in 200 unclassifiable mentally retarded patients and 200 normal controls.

Authors: A T Tharapel; R L Summitt
Journal: Hum Genet Date: 1978-03-17 Impact factor: 4.132

Inversion homozygosity of chromosome no. 9 in a higly inbred kindred.

1. Chromosome polymorphism in American Negro and White populations.

2. Structural variation in chromosome No 9.

3. A simple technique for demonstrating centromeric heterochromatin.

4. Identification of each human chromosome with a modified Giemsa stain.

5. Pericentric inversions of chromosome 9 in two families.

6. An inherited pericentric chromosomal inversion (46, inv3 (p-q+)) associated with skeletal anomalies.

7. Pericentric inversions of human chromosomes 9 and 10.

1. Pericentric inversion in homologues of chromosome 9.

2. A closer look at chromosomal inversions.

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

Review 4. Homozygous paracentric inversion 12 in a mentally retarded boy: a case report and review of the literature.

5. Homozygosity for inversion (2)(p12q14).

6. A homozygote for pericentric inversion of chromosome 4.

7. Familial reciprocal translocation t(9;13)(p11;p12) investigated by silver staining and in situ hybridisation.

8. A fetus with recombinant of chromosome 8 inherited from her carrier father.

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

10. Minor chromosome variations and selected heteromorphisms in 200 unclassifiable mentally retarded patients and 200 normal controls.