Literature DB >> 1511981

Ornithine transcarbamylase (OTC) deficiency in a female patient with a de nova deletion of the paternal X chromosome.

R Slomski1, I Braulke, C Behrend, E Schröder, J P Colombo, J Reiss.   

Abstract

A girl with ornithine transcarbamylase (OTC) deficiency was investigated for molecular and cytogenetic abnormalities that might explain this phenotype. Analysis with polymorphic DNA markers indicated that the patient did not inherit paternal alleles of the OTC locus, but that she did inherit the proximal locus DXS7 and the long arm of chromosome X. High-resolution cytogenetic analysis of the patient indicated a deletion of Xp11.4-p21, whereas both parents had normal karyotypes. Since the mother might be heterozygous according to biochemical tests, a second mutation within the maternal OTC gene cannot be excluded.

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Year:  1992        PMID： 1511981     DOI： 10.1007/bf00221953

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


  30 in total

1.  Fatal hyperammonemia resulting from a C-to-T mutation at a MspI site of the ornithine transcarbamylase gene.

Authors:  D Hentzen; A Pelet; D Feldman; D Rabier; J Berthelot; A Munnich
Journal:  Hum Genet       Date:  1991-12       Impact factor: 4.132

2.  A simple salting out procedure for extracting DNA from human nucleated cells.

Authors:  S A Miller; D D Dykes; H F Polesky
Journal:  Nucleic Acids Res       Date:  1988-02-11       Impact factor: 16.971

3.  A new DNA marker tightly linked to the fragile X locus (FRAXA).

Authors:  G K Suthers; D F Callen; V J Hyland; H M Kozman; E Baker; H Eyre; P S Harper; S H Roberts; M C Hors-Cayla; K E Davies
Journal:  Science       Date:  1989-12-08       Impact factor: 47.728

4.  Lethal ornithine transcarbamylase deficiency in a female neonate.

Authors:  N Girgis; V McGravey; B L Shah; J Herrin; V E Shih
Journal:  J Inherit Metab Dis       Date:  1987       Impact factor: 4.982

5.  A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity.

Authors:  A P Feinberg; B Vogelstein
Journal:  Anal Biochem       Date:  1983-07-01       Impact factor: 3.365

6.  Detection and exclusion of carriers of ornithine transcarbamylase deficiency by RFLP analysis.

Authors:  M Schwartz; E Christensen; N C Christensen; F Skovby; K E Davies; J M Old
Journal:  Clin Genet       Date:  1986-05       Impact factor: 4.438

7.  Isolation of a DNA probe of potential use for diagnosis of the fragile-X syndrome.

Authors:  N Dahl; K Hammarström-Heeroma; P Goonewardena; C Wadelius; K H Gustavson; G Holmgren; G J van Ommen; U Pettersson
Journal:  Hum Genet       Date:  1989-06       Impact factor: 4.132

8.  Molecular heterogeneity of translocations associated with muscular dystrophy.

Authors:  Y Boyd; E Munro; P Ray; R Worton; T Monaco; L Kunkel; I Craig
Journal:  Clin Genet       Date:  1987-04       Impact factor: 4.438

9.  Hyperammonemia.

Authors:  M L Batshaw
Journal:  Curr Probl Pediatr       Date:  1984-11

10.  Genetic linkage relationships of seven DNA probes with Duchenne and Becker muscular dystrophy.

Authors:  C S Brown; N S Thomas; M Sarfarazi; K E Davies; L Kunkel; P L Pearson; H M Kingston; D J Shaw; P S Harper
Journal:  Hum Genet       Date:  1985       Impact factor: 4.132
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