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Literature DB >> 6842562

Partial trisomy 12q: a clinically recognisable syndrome. Genetic risks associated with translocations of chromosome 12q.

Abstract

A newborn child with an unusual facial appearance and multiple abnormalities was found to be trisomic for a large part of 12q as a result of adjacent 1 segregation of a familial translocation, t(9;12) (p24;q21.2). A combination of cytogenetic analysis, clinical features, and enzyme marker studies allows an accurate assessment of the breakpoints. Although trisomic for a considerably larger area of 12q than other reported cases, there are many similar features suggesting that trisomy 12q is a clinically recognisable syndrome. The frequency and mode of segregation of 12q translocations and their implications for genetic counselling are discussed.

Entities: Disease Species

Mesh：

Year: 1983 PMID： 6842562 PMCID： PMC1049004 DOI： 10.1136/jmg.20.2.86

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

17 in total

1. [Cytogenetic study of a recent case of trisomy 12p].

Authors: M J André
Journal: Bull Assoc Anat (Nancy) Date: 1976-09

2. Rare translocation 47,XY,t(12;21) in Down's syndrome.

Authors: M Mikkelsen
Journal: Hum Hered Date: 1974 Impact factor: 0.444

3. [Partial trisomy 12 and 8 with mosaicism, associated with translocation t(8;12) (p21;q13)].

Authors: J B Savary; J Cousin; J L Laï; M Deminatti
Journal: Ann Genet Date: 1977-06

4. A newborn child with karyotype 47,XX,+der(12 (12pter leads to 12q12::9q24 leads to 8qter),t(8;12) (q24;q12) pat.

Authors: H Nielsen; M Vetner; V Holm; S Askjaer; E Reske-Nielsen
Journal: Hum Genet Date: 1977-03-14 Impact factor: 4.132

5. Genetic risks for familial reciprocal translocations with special emphasis on those leading to 9p, 10p and 12p trisomies.

Authors: J Stene; S Stengel-Rutkowski
Journal: Ann Hum Genet Date: 1982-01-01 Impact factor: 1.670

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

Authors: P Jalbert; B Sele; H Jalbert
Journal: Hum Genet Date: 1980 Impact factor: 4.132

7. Partial trisomy 12q associated with a familial translocation.

Authors: L Hemming; R Brown
Journal: Clin Genet Date: 1979-07 Impact factor: 4.438

8. [Increase of the LDH-B activity in a boy with 12p trisomy by malsegregation of a maternal translocation t(12;14) (q12;p11)].

Authors: M O Rethoré; J C Kaplan; C Junien; J Cruveiller; B Dutrillaux; A Aurias; S Carpentier; J Lafourcade
Journal: Ann Genet Date: 1975-06

9. Confirmation of the assignment of the gene for galactose-1-phosphate uridylyltransferase (E.C. 2.7.7.12) to human chromosome 9.

Authors: P A Benn; G G D'Ancona; C M Croce; T B Shows; W J Mellman
Journal: Cytogenet Cell Genet Date: 1979

Partial trisomy 12q: a clinically recognisable syndrome. Genetic risks associated with translocations of chromosome 12q.

1. [Cytogenetic study of a recent case of trisomy 12p].

2. Rare translocation 47,XY,t(12;21) in Down's syndrome.

3. [Partial trisomy 12 and 8 with mosaicism, associated with translocation t(8;12) (p21;q13)].

4. A newborn child with karyotype 47,XX,+der(12 (12pter leads to 12q12::9q24 leads to 8qter),t(8;12) (q24;q12) pat.

5. Genetic risks for familial reciprocal translocations with special emphasis on those leading to 9p, 10p and 12p trisomies.

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

7. Partial trisomy 12q associated with a familial translocation.

8. [Increase of the LDH-B activity in a boy with 12p trisomy by malsegregation of a maternal translocation t(12;14) (q12;p11)].

9. Confirmation of the assignment of the gene for galactose-1-phosphate uridylyltransferase (E.C. 2.7.7.12) to human chromosome 9.

10. Systematic analysis of 95 reciprocal translocations of autosomes.

Review 1. Eleven new cases of del(9p) and features from 80 cases.

2. Partial trisomy 12q24.31----qter.

3. TBX5 intragenic duplication: a family with an atypical Holt-Oram syndrome phenotype.

Review 4. Mosaicism for duplication 12q (12q13-->q24.2) in a dysmorphic male infant.