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Maternal origin of a de novo chromosome 8 deletion in a patient with Langer-Giedion syndrome

✍ Scribed by H. -J. Lüdecke; Ruth Burdiek; Gabriele Senger; U. Claussen; E. Passarge; B. Horsthemke


Publisher
Springer
Year
1989
Tongue
English
Weight
267 KB
Volume
82
Category
Article
ISSN
0340-6717

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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 pro