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 Genetjournal_title
Journal of medical geneticsauthors
Langlois S,Yong SL,Wilson RD,Kwong LC,Kalousek DKdoi
10.1136/jmg.32.11.871subject
Has Abstractpub_date
1995-11-01 00:00:00pages
871-5issue
11eissn
0022-2593issn
1468-6244journal_volume
32pub_type
杂志文章,评审abstract::An association of ocular colobomata and congenital heart disease was observed in seven patients. Two of these were maternal half sisters whose mother also had ocular colobomata. All the patients had normal karyotypes. There was a high incidence of other associated abnormalities involving the central nervous, skeletal,...
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更新日期:1996-02-01 00:00:00
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更新日期:2005-07-01 00:00:00
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更新日期:1994-05-01 00:00:00
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更新日期:1992-01-01 00:00:00
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pub_type: 杂志文章,评审
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更新日期:1991-09-01 00:00:00
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更新日期:2006-06-01 00:00:00
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pub_type: 杂志文章,评审
doi:10.1136/jmg.2004.026955
更新日期:2005-08-01 00:00:00
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doi:10.1136/jmg.16.4.323
更新日期:1979-08-01 00:00:00
abstract:BACKGROUND:Cole-Carpenter syndrome (CCS) is commonly classified as a rare Osteogenesis Imperfecta (OI) disorder. This was following the description of two unrelated patients with very similar phenotypes who were subsequently shown to have a heterozygous missense mutation in P4HB. OBJECTIVES:Here, we report a 3-year ol...
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更新日期:2018-03-01 00:00:00
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更新日期:2005-06-01 00:00:00
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更新日期:1977-12-01 00:00:00