Document Detail

46,XY/47,XY, + 17p + mosaicism in amniocytes associated with fetal abnormalities despite normal fetal blood karyotype.
MedLine Citation:
PMID:  8415429     Owner:  NLM     Status:  MEDLINE    
46,XY/47,XY, + 17p + mosaicism was found in two primary amniotic fluid cultures (AFCs). Fetal blood karyotype was normal, but ultrasonography revealed Dandy-Walker malformation and bilateral choroid plexus cysts. Following termination of pregnancy, fetal examination revealed post-axial polydactyly and neuroblastoma-in-situ affecting both adrenals in addition to the cerebellar abnormalities. Mosaicism for the aberrant cell line was confirmed in all fetal tissues sampled and in the placenta.
H M Kingston; U Nicolini; J Haslam; T Andrews
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Prenatal diagnosis     Volume:  13     ISSN:  0197-3851     ISO Abbreviation:  Prenat. Diagn.     Publication Date:  1993 Jul 
Date Detail:
Created Date:  1993-11-23     Completed Date:  1993-11-23     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  8106540     Medline TA:  Prenat Diagn     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  637-42     Citation Subset:  IM    
Regional Genetics Centre, St Mary's Hospital, Manchester, U.K.
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MeSH Terms
Abnormalities, Multiple / genetics*
Amniotic Fluid / cytology*
Central Nervous System / abnormalities*,  ultrasonography
Chromosomes, Human, Pair 17*
Fetal Blood / physiology*

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