RT Journal Article
SR Electronic
T1 Prenatal and postnatal growth failure associated with maternal heterodisomy for chromosome 7.
JF Journal of Medical Genetics
JO J Med Genet
FD BMJ Publishing Group Ltd
SP 871
OP 875
DO 10.1136/jmg.32.11.871
VO 32
IS 11
A1 S Langlois
A1 S L Yong
A1 R D Wilson
A1 L C Kwong
A1 D K Kalousek
YR 1995
UL http://jmg.bmj.com/content/32/11/871.abstract
AB 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.