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    
Abstract/OtherAbstract:
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.
Authors:
S Ma; S S Tang; B Ho Yuen; H Bruyere; M Peñaherrera; W P Robinson
Related Documents :
1759937 - Selectivity in paternal and infanticidal responses by male mice: effects of relatedness...
11241967 - Parental care in the buffy-tufted-ear marmoset (callithrix aurita) in wild and captive ...
6730897 - Formation of cytoplasm-containing vesicles from double-walled coated invaginations cont...
6513507 - Breeding and offspring rearing ability of c57bl/6j dystrophic mice.
16226967 - High-grade congenital esophageal stenosis owing to a membranous diaphragm with tracheoe...
3402667 - Human interlimb coordination: the first 6 months of independent walking.
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    
Affiliation:
Department of Obstetrics and Gynecology, University of British Columbia, Vancouver, BC, Canada. sai@interchange.ubc.ca
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Descriptor/Qualifier:
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


Previous Document:  Bioavailability of hCG after intramuscular or subcutaneous injection in obese and non-obese women.
Next Document:  10, 15 reciprocal translocation in an infertile man: ultrastructural and fluorescence in-situ hybrid...