| Is there a correlation between the proportion of cells with isodicentric Yp at amniocentesis and phenotypic sex? | |
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MedLine Citation:
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PMID: 20658696 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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OBJECTIVES: (1) To present a case with prenatally detected idic Yp. (2) To review literature to assess if there is a correlation between the proportion of amniocytes with idic Yp and phenotypic sex. METHODS: Seventeen cases were reviewed. RESULTS: Amniocentesis was done due to positive integrated prenatal screening result. Interphase FISH was normal for chromosomes 13, 18, and 21, but mosaic for cell lines with 1 X and 0 to 2 copies of DYZ3, SRY, or DYZ1(Yq12). Amniocytes had 45,X[28]/46,X,idic(Y)(q11.2)[2].ish idic(Y)(DYZ3 + +, SRY + +). An apparently normal female was born at 37 weeks. The umbilical cord had 45,X[50], but cord blood had 45,X[17]/46,X,idic(Y)[31]/47,X,idic(Y)x2[2]. Review of 17 cases showed that 13 cases with 20 to 100% cells with idic Yp all had a male phenotype. Two cases with 3 and 7% of idic Yp cells had a female phenotype. Two cases with 45,X only at prenatal diagnosis but idic Yp detected postnatally were phenotypic male. CONCLUSION: (1) We present the first report of prenatally detected idic Yp and Yq12 resulting in an apparently normal female at birth. (2) Finding of > 20% of G-banded amniocytes with idic Yp in the absence of other indicators of foetal structural anomalies seems to correlate with phenotypically normal male in most cases. |
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Authors:
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Jie Xu; V M Siu |
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Publication Detail:
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Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: Prenatal diagnosis Volume: 30 ISSN: 1097-0223 ISO Abbreviation: Prenat. Diagn. Publication Date: 2010 Sep |
Date Detail:
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Created Date: 2010-09-02 Completed Date: 2010-12-15 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 8106540 Medline TA: Prenat Diagn Country: England |
Other Details:
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Languages: eng Pagination: 839-44 Citation Subset: IM |
Copyright Information:
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(c) 2010 John Wiley & Sons, Ltd. |
Affiliation:
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Cytogenetics, London Health Sciences Centre, University of Western Ontario, London, Ontario, Canada. Jie.Xu@lhsc.on.ca |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adult Amniocentesis Chromosomes, Human, Y* Female Humans In Situ Hybridization, Fluorescence Male Mosaicism* Pedigree Pregnancy Sex* Sex Chromosome Aberrations* |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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