Document Detail

Cytogenetic and molecular study of a premature male infant with 46,XX derived from ICSI: case report.
MedLine Citation:
PMID:  14585877     Owner:  NLM     Status:  MEDLINE    
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.
S Ma; S S Tang; B Ho Yuen; H Bruyere; M Peñaherrera; W P Robinson
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Human reproduction (Oxford, England)     Volume:  18     ISSN:  0268-1161     ISO Abbreviation:  Hum. Reprod.     Publication Date:  2003 Nov 
Date Detail:
Created Date:  2003-10-30     Completed Date:  2004-06-24     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  8701199     Medline TA:  Hum Reprod     Country:  England    
Other Details:
Languages:  eng     Pagination:  2298-301     Citation Subset:  IM    
Department of Obstetrics and Gynecology, University of British Columbia, Vancouver, BC, Canada.
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MeSH Terms
Chromosome Mapping
Chromosomes, Human, X / genetics
Cytogenetic Analysis*
DNA Methylation
Gene Deletion
Genes, sry
Gonadal Dysgenesis, 46,XX / genetics*
In Situ Hybridization, Fluorescence
Infant, Newborn
Infant, Premature*
Nucleic Acid Hybridization
Sperm Injections, Intracytoplasmic*

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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