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Literature DB >> 1177287

A case of partial (9p) trisomy in a family with a balanced translocation 46,XX,t(1p+9q-).

Abstract

A case of partial trisomy 9 is described, conforming that this will produce a recognizable syndrome of a characteristic facies with deep-set eyes and an unusual shape of the nose. Failure of secondary sexual characteristics to develop appears to be a feature in adults. In this case the mother had a balanced translocation between chromosomes 1 and 9 and must have, in addition, had a non-disjunction of her normal and her deleted No. 9 in order to produce the unbalanced state in her daughter.

Mesh：

Year: 1975 PMID： 1177287 PMCID： PMC1013298 DOI： 10.1136/jmg.12.3.310

Source DB: PubMed Journal: J Med Genet ISSN： 0022-2593 Impact factor: 6.318

10 in total

1. Chromosome preparations of leukocytes cultured from human peripheral blood.

Authors: P S MOORHEAD; P C NOWELL; W J MELLMAN; D M BATTIPS; D A HUNGERFORD
Journal: Exp Cell Res Date: 1960-09 Impact factor: 3.905

2. [Giemsa-R-banding analysis of the trisomy 9p and report of a new case].

Authors: M O Rethoré; H Hoehn; H D Rott; J Couturier; B Dutrillaux; J Lejeune
Journal: Humangenetik Date: 1973-04-16

3. A rapid banding technique for human chromosomes.

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

4. Trisomy for the short arms of chromosome 9 in two generations, with balanced translocations t(15pplus;9qminus) in three generations.

Authors: P E Podruch; B Weisskopf
Journal: J Pediatr Date: 1974-07 Impact factor: 4.406

5. A new case of trisomy for the short arm of No. 9 chromosome.

Authors: C Baccichetti; R Tenconi
Journal: J Med Genet Date: 1973-09 Impact factor: 6.318

6. [4 cases of trisomy for the short arm of chromosome 9. Individualization of a new morbid entity].

Authors: M O Rethoré; L Larget-Piet; D Abonyi; M Boeswillwald; R Berger; S Carpentier; J Cruveiller; B Dutrillau; J Lafourcade; M Penneau; J Lejeune
Journal: Ann Genet Date: 1970-12

7. An intersexual infant with an extra chromosome.

Authors: J Insley; D I Rushton; H W Jones
Journal: Ann Genet Date: 1968-06

8. [Partial C trisomy through translocation t(Cp-;Gp-)].

Authors: M Deminatti; E Maillard; B Gosselin; J M Peltier; M F Bulteel; C Dupuis
Journal: Ann Genet Date: 1969-03

9. [Digital and palmar dermatoglyphics in normal patients of the population of São Paulo].

Authors: S P Toledo; S G Saldanha; R Laurenti; P H Saldanha
Journal: Rev Paul Med Date: 1969-07-01

10. Presumed trisomy for the short arm of chromosome No. 9 not due to inherited translocation.

Authors: H Hoehn; W Engel; H Reinwein
Journal: Humangenetik Date: 1971

10 in total

7 in total

A case of partial (9p) trisomy in a family with a balanced translocation 46,XX,t(1p+9q-).

1. Chromosome preparations of leukocytes cultured from human peripheral blood.

2. [Giemsa-R-banding analysis of the trisomy 9p and report of a new case].

3. A rapid banding technique for human chromosomes.

4. Trisomy for the short arms of chromosome 9 in two generations, with balanced translocations t(15pplus;9qminus) in three generations.

5. A new case of trisomy for the short arm of No. 9 chromosome.

6. [4 cases of trisomy for the short arm of chromosome 9. Individualization of a new morbid entity].

7. An intersexual infant with an extra chromosome.

8. [Partial C trisomy through translocation t(Cp-;Gp-)].

9. [Digital and palmar dermatoglyphics in normal patients of the population of São Paulo].

10. Presumed trisomy for the short arm of chromosome No. 9 not due to inherited translocation.

1. Possible intrachromosomal duplication in a case of trisomy 9p.

2. Partial and complete trisomy 9: delineation of a trisomy 9 syndrome.

3. Familial trisomy 9p and spinal muscular atrophy: clinical, cytogenetic and embryological findings.

Review 4. Factors predisposing to adjacent 2 and 3:1 disjunctions: study of 161 human reciprocal translocations.

5. Trisomy 16p in a liveborn infant and a review of partial and full trisomy 16.

6. Reciprocal translocations: a way to predict the mode of imbalanced segregation by pachytene-diagram drawing.

7. Structural variability of human chromosome 9 in relation to its evolution.