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Literature DB >> 858622

Partial trisomy 12p due to t(12;21)pat translocation.

B Biederman, P Bowen, C Robertson, D Schiff.

Abstract

Partial trisomy (interchromosomal duplication) of the short arm of chromosome No. 12 was observed in an infant girl with psychomotor retardation, prominent forehead, ptosis of the right eyelid, esotropia/exotropia, flat nose, hypotonia and other anomalies. A comparison of her features with those in five reported cases with a similar chromosomal imbalance shows certain features common to all, but the material is too limited for definitive characterization of a trisomy 12p syndrome.

Entities: Disease Species

Mesh：

Year: 1977 PMID： 858622 DOI： 10.1007/BF00390433

Source DB: PubMed Journal: Hum Genet ISSN： 0340-6717 Impact factor: 4.132

8 in total

1. Identification of partial 12 trisomy by quinacrine fluorescence.

Authors: I A Uchida; C C Lin
Journal: J Pediatr Date: 1973-02 Impact factor: 4.406

2. Banding in human chromosomes treated with trypsin.

Authors: H C Wang; S Fedoroff
Journal: Nat New Biol Date: 1972-01-12

3. Assignment of the genes for malate oxidoreductase decarboxylating to chromosome 6 and peptidase B and lactate dehydrogenase B to chromosome 12 in man.

Authors: T R Chen; F A McMorris; R Creagan; F Ricciuti; J Tischfield; F Ruddle
Journal: Am J Hum Genet Date: 1973-03 Impact factor: 11.025

4. Trisomy 12p due to familial t(12p-,6q plus) translocation.

Authors: J P Fryns; H Van Den Berghe
Journal: Humangenetik Date: 1974

5. The 12p trisomy syndrome.

Authors: S Armendares; F Salamanca; S Nava; S Ramirez; J M Cantu
Journal: Ann Genet Date: 1975-06

6. [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

7. Human acrocentric ring chromosomes and satellite association.

Authors: J M Cantu; F Salamanca; J Sanchez; T Peña; C Pacheco; S Armendares
Journal: Ann Genet Date: 1975-09

8. Human nucleolar organizer chromosomes: satellite associations.

Authors: T E Denton; W M Howell; J V Barrett
Journal: Chromosoma Date: 1976-03-31 Impact factor: 4.316

8 in total

7 in total

1. Two cases of trisomy 12p due to rcpt (12;21)(p11;p11) inherited through three generations.

Authors: M Parslow; D Chambers; M Drummond; W Hunter
Journal: Hum Genet Date: 1979-04-05 Impact factor: 4.132

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

Authors: P Jalbert; B Sele
Journal: J Med Genet Date: 1979-12 Impact factor: 6.318

3. Translocations involving chromosome 12. I. A report of a 12,21 translocation in a woman with recurrent abortions, and a study of the breakpoints and modes of ascertainment of translocations involving chromosome 12.

Authors: J H Ford; R H Rofe; R P Pavy
Journal: Hum Genet Date: 1981 Impact factor: 4.132