UPD16 itself is not a cause of intrauterine growth restriction.
Fetal Pediatr Pathol
; 37(6): 452-464, 2018 Dec.
Article
em En
| MEDLINE
| ID: mdl-30468402
ABSTRACT
BACKGROUND:
The clinical relevance of uniparental disomy (UPD16) for chromosome 16 is currently unclear. METHODS ANDRESULT:
We performed chromosome microarray analysis on two fetus and their placentas, fluorescence in situ hybridization (FISH) to exclude the hidden chr16 trisomy mosaicism in the fetuses, and clinical whole-exome sequencing to assess for homozygosity mutations of autosomal-recessive diseases.RESULTS:
Microarray analysis of two fetuses had UPD16. The membranous placenta of the case 1 had confined placental mosaicism (CPM) for trisomy 16. Clinical whole-exome sequencing on chromosome 16 revealed three potentially pathogenic single nucleotide polymorphisms (SNPs). Gap-polymerase chain reaction (PCR) and MLPA for a-thal deletions demonstrated that case 2 was homozygous for the -SEA deletion.CONCLUSIONS:
The poor outcome in these fetuses may be attributed to other factors, the membranous placenta and the -SEA deletion, respectively. Fetal UPD16 itself might be not correlated with intrauterine growth restriction (IUGR) and thus is not the basic cause of IUGR.Palavras-chave
Texto completo:
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Base de dados:
MEDLINE
Assunto principal:
Cromossomos Humanos Par 16
/
Dissomia Uniparental
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Retardo do Crescimento Fetal
Limite:
Female
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Humans
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Pregnancy
Idioma:
En
Ano de publicação:
2018
Tipo de documento:
Article