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. 1989 Jul;82(4):327-9.
doi: 10.1007/BF00273991.

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

H J Lüdecke  1 , R Burdiek, G Senger, U Claussen, E Passarge, B Horsthemke
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Maternal origin of a de novo chromosome 8 deletion in a patient with Langer-Giedion syndrome

H J Lüdecke et al. Hum Genet. 1989 Jul.

Abstract

The anonymous DNA probe L32, which defines the D8S48 locus within the Langer-Giedion syndrome chromosome region on the long arm of chromosome 8, was used to search for a common restriction fragment length polymorphism. A HindIII and an MspI polymorphism were detected (polymorphism information contents 0.25 and 0.19, respectively). Both polymorphisms were informative in the family of a Langer-Giedion patient carrying a de novo interstitial deletion 8q23-24.1. Lack of transmission of a maternal haplotype indicates that this deletion occurred during maternal gametogenesis. This finding contrasts with the frequent paternal origin of mutations in other microdeletion syndromes.

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References

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