Literature DB >> 3476222

Tetrasomy for the short arm of chromosome 12 with accessory isochromosome (+i(12p)) and a marked LDH-B gene dosage effect.

P Steinbach, H Rehder.   

Abstract

A fetus with tetrasomy for the short arm of chromosome 12 due to a de novo accessory isochromosome i(12p) is described. Involvement of the 12p in this chromosome aberration was suggested by banding analysis and substantiated by detection of a marked increase of LDH-B in the fetal fibroblasts. The syndrome shown by this fetus includes many of the minor anomalies described for live-born patients with partial trisomy 12p, and in addition malformations including brachymelia, anal atresia and double kidneys.

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Year:  1987        PMID： 3476222     DOI： 10.1111/j.1399-0004.1987.tb03314.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


  5 in total

1.  Molecular genetic analysis of a de novo balanced translocation t(6;17)(p21.31;q11.2) associated with hypospadias and anorectal malformation.

Authors:  Mahmoud Reza Mansouri; Birgit Carlsson; Edward Davey; Agneta Nordenskjöld; Tomas Wester; Göran Annerén; Göran Läckgren; Niklas Dahl
Journal:  Hum Genet       Date:  2006-01-03       Impact factor: 4.132

2.  Molecular cytogenetic study of patients with Pallister-Killian syndrome.

Authors:  M Larramendy; M Heiskanen; M Wessman; A Ritvanen; P Peltomäki; K Simola; H Kääriäinen; H von Koskull; M Kähkönen; S Knuutila
Journal:  Hum Genet       Date:  1993-03       Impact factor: 4.132

3.  Molecular analysis of the isochromosome 12P in the Pallister-Killian syndrome. Construction of a mouse-human hybrid cell line containing an i(12p) as the sole human chromosome.

Authors:  J Zhang; P Marynen; K Devriendt; J P Fryns; H Van den Berghe; J J Cassiman
Journal:  Hum Genet       Date:  1989-11       Impact factor: 4.132

4.  Genomewide scan for anal atresia in swine identifies linkage and association with a chromosome region on Sus scrofa chromosome 1.

Authors:  Sabine Wiedemann; Ruedi Fries; Georg Thaller
Journal:  Genetics       Date:  2005-07-14       Impact factor: 4.562

5.  Serum lactate dehydrogenase isoenzyme 1 activity in patients with testicular germ cell tumors correlates with the total number of copies of the short arm of chromosome 12 in the tumor.

Authors:  F E von Eyben; W E de Graaff; J Marrink; O Blaabjerg; D T Sleijfer; H S Koops; J W Oosterhuis; P H Petersen; J van Echten-Arends; B de Jong
Journal:  Mol Gen Genet       Date:  1992-10
  5 in total

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