PMID- 12170536
OWN - NLM
STAT- MEDLINE
DCOM- 20030123
LR  - 20111214
IS  - 0024-7758 (Print)
IS  - 0024-7758 (Linking)
VI  - 47
IP  - 7
DP  - 2002 Jul
TI  - 47,XX + mar karyotype containing genes from the azoospermia factor region. A case 
      report.
PG  - 575-80
AB  - BACKGROUND: Abnormal embryo development is the major cause of implantation 
      failure and accounts for the low rate of human fertility in vitro and in vivo. 
      Chromosome abnormalities are widely involved in this process through meiotic 
      nondisjunction, fertilization abnormalities and mitotic nondisjunction. CASE: In 
      our assisted reproductive technology program a couple underwent cytogenetic 
      analysis. The woman had a 47,XX + mar karyotype. We investigated this patient by 
      chromosome analysis, fluorescence in situ hybridization (FISH) and polymerase 
      chain reaction (PCR) DNA analysis. The marker chromosome was found to be very 
      similar to a Y chromosome in size and QFQ staining pattern. Therefore, it was 
      tested by FISH using alpha- and beta-satellite DNA specific for the Y chromosome, 
      some YACs specific for the long arm of the Y chromosome and alpha-satellite DNA 
      specific for 15 chromosomes as probes. In order to define this marker, the next 
      step was PCR amplification of the whole genomic DNA using specific landmarks 
      (sequence-tagged sites) to encompass the azoospermia factor (AZF) region on the 
      long arm of the Y chromosome. CONCLUSION: A woman had an extra chromosome 
      containing centromeric DNA derived from the Y and 15 other chromosomes, 
      heterochromatic regions derived from 15 chromosomes and a large heterochromatic 
      block at the end of the long arm that definitely was not Y chromosome 
      heterochromatin (beta-satellite). PCR showed several genes of the Y chromosome 
      long arm that are assumed to be involved in male gametogenesis. Phenotypic 
      effects could not be excluded because of the presence of AZF genes. Oocyte 
      karyotyping might better explain the role of the genetic problem on female 
      infertility.
FAU - Causio, Franco
AU  - Causio F
AD  - Departments of Obstetrics and Gynecology and of Genetics, University of Bari, 
      Bari, Italy. causio@libero.it
FAU - Gentile, Ernesto
AU  - Gentile E
FAU - Fischetto, Rita
AU  - Fischetto R
FAU - Archidiacono, Nicoletta
AU  - Archidiacono N
FAU - Magro, Nicola
AU  - Magro N
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - United States
TA  - J Reprod Med
JT  - The Journal of reproductive medicine
JID - 0173343
RN  - 0 (DNA Probes)
RN  - 0 (Seminal Plasma Proteins)
SB  - IM
MH  - Adult
MH  - Chromosomes, Human, Y/*genetics
MH  - DNA Probes
MH  - Female
MH  - Genetic Loci
MH  - Genetic Testing
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infertility, Female/*genetics
MH  - Karyotyping
MH  - Male
MH  - Polymerase Chain Reaction
MH  - Seminal Plasma Proteins/genetics
MH  - *Sex Chromosome Aberrations
EDAT- 2002/08/13 10:00
MHDA- 2003/01/24 04:00
CRDT- 2002/08/13 10:00
PHST- 2002/08/13 10:00 [pubmed]
PHST- 2003/01/24 04:00 [medline]
PHST- 2002/08/13 10:00 [entrez]
PST - ppublish
SO  - J Reprod Med. 2002 Jul;47(7):575-80.