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Literature DB >> 1177284

Partial 9 trisomy by 3:1 segregation of balanced maternal translocation (7q+; 9q-).

Abstract

A male infant is presented with an extra derivate chromosome No. 9 resulting from a 3:1 meiotic segregation of a maternal balanced translocation involving the long arms of chromosomes No. 7 and 9. The patient is trisomic for the short arm and secondary constriction of the long arm of No. 9 and for the telomeric end of the long arm of No. 7. In addition to the features of the 9p trisomy syndrome he presents marked congenital myopia and extreme hypoplasia of the penis.

Entities: Disease Species

Mesh：

Year: 1975 PMID： 1177284 PMCID： PMC1013295 DOI： 10.1136/jmg.12.3.301

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

6 in total

1. [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

2. 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

3. [Cp trisomy: a new syndrome].

Authors: J M Canu; L Buentello; S Armendares
Journal: Ann Genet Date: 1971-09

4. [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

5. [Partial trisonomy C9 in a case of balanced maternal B4-C9 translocation].

Authors: H D Rott; G Schwanitz; K P Grosse
Journal: Z Kinderheilkd Date: 1971

6. 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

6 in total

7 in total

Partial 9 trisomy by 3:1 segregation of balanced maternal translocation (7q+; 9q-).

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

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

3. [Cp trisomy: a new syndrome].

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

5. [Partial trisonomy C9 in a case of balanced maternal B4-C9 translocation].

6. 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. De novo trisomy 9pter leads to q13.

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.