| Cytogenetic and molecular study of a premature male infant with 46,XX derived from ICSI: case report. | |
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MedLine Citation:
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PMID: 14585877 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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We investigated the aetiology of the male phenotype in a premature infant derived from ICSI with a 46,XX karyotype. A karyotypically normal couple underwent ICSI because of obstructive azoospermia in the male partner. Sperm were retrieved by testicular sperm extraction (TESE), cryopreserved, and later used for ICSI. The pregnancy after ICSI ended at 20 weeks. A normal-appearing male was delivered but he did not survive. Umbilical cord blood and placenta were sampled and used for molecular and cytogenetic investigation. The 46,XX karyotype from G-banding in this male infant correlated to a balanced female comparative genomic hybridization (CGH) profile in placental tissue. No PCR amplification of SRY on the p arm of the Y chromosome was observed while fluorescence in-situ hybridization (FISH) with the SRY probe also could not detect the gene in cord blood or placental tissues. CGH and FISH, with X and Y centromeric probes, failed to detect mosaicism in the trophoblast, stroma and amnion. Skewed X-chromosome inactivation (81%) was found in the chorionic villi. The molecular and cytogenetic studies indicated a 46,XX male infant without the SRY gene or 46,XX/XY mosaicism. The possible mechanism in this SRY-negative XX male by ICSI is discussed. |
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Authors:
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S Ma; S S Tang; B Ho Yuen; H Bruyere; M Peñaherrera; W P Robinson |
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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: Human reproduction (Oxford, England) Volume: 18 ISSN: 0268-1161 ISO Abbreviation: Hum. Reprod. Publication Date: 2003 Nov |
Date Detail:
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Created Date: 2003-10-30 Completed Date: 2004-06-24 Revised Date: 2006-11-15 |
Medline Journal Info:
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Nlm Unique ID: 8701199 Medline TA: Hum Reprod Country: England |
Other Details:
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Languages: eng Pagination: 2298-301 Citation Subset: IM |
Affiliation:
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Department of Obstetrics and Gynecology, University of British Columbia, Vancouver, BC, Canada. sai@interchange.ubc.ca |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adult Chromosome Mapping Chromosomes, Human, X / genetics Cytogenetic Analysis* DNA Methylation Female Gene Deletion Genes, sry Gonadal Dysgenesis, 46,XX / genetics* Humans In Situ Hybridization, Fluorescence Infant, Newborn Infant, Premature* Karyotyping Male Nucleic Acid Hybridization Sperm Injections, Intracytoplasmic* |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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