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. 1995 Nov;32(11):871–875. doi: 10.1136/jmg.32.11.871

Prenatal and postnatal growth failure associated with maternal heterodisomy for chromosome 7.

S Langlois 1, S L Yong 1, R D Wilson 1, L C Kwong 1, D K Kalousek 1
PMCID: PMC1051738  PMID: 8592330

Abstract

The association of maternal uniparental disomy for chromosome 7 and postnatal growth failure has been reported in four cases and suggests the presence of genomic imprinting of one or more growth related genes on chromosome 7. However, in the reported cases, the possibility of homozygosity for a recessive mutation could not be excluded as the cause of the growth failure as in all cases isodisomy rather than heterodisomy for chromosome 7 was present. We report a case of prenatal and postnatal growth retardation associated with a prenatal diagnosis of mosaicism for trisomy 7 confined to the placenta. DNA typing of polymorphic markers on chromosome 7 has established that the zygote originated as a trisomy 7 with two maternal and one paternal chromosomes 7 with subsequent loss of the paternal chromosome resulting in a disomic child with maternal heterodisomy for chromosome 7. The growth failure seen in this child with heterodisomy 7 lends strong support to the hypothesis of imprinted gene(s) on chromosome 7.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

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