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

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.

journal_name

J Med Genet

authors

Langlois S,Yong SL,Wilson RD,Kwong LC,Kalousek DK

doi

10.1136/jmg.32.11.871

subject

Has Abstract

pub_date

1995-11-01 00:00:00

pages

871-5

issue

11

eissn

0022-2593

issn

1468-6244

journal_volume

32

pub_type

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