PMID- 10493892
OWN - NLM
STAT- MEDLINE
DCOM- 19991021
LR  - 20041117
IS  - 0014-4800 (Print)
IS  - 0014-4800 (Linking)
VI  - 67
IP  - 1
DP  - 1999 Sep
TI  - A variant Klinefelter syndrome patient with an XXY/XX/XY karyotype studied by 
      GTG-banding and fluorescence in situ hybridization.
PG  - 50-6
AB  - Klinefelter syndrome is the first human sex chromosomal abnormality to be 
      reported. The majority of Klinefelter syndrome patients have the XXY karyotype. 
      Approximately 15% of Klinefelter patients, however, are mosaics with variable 
      phenotypes. Among the variant Klinefelter genotypes are such karyotypes as XY/XXY 
      and XX/XXY. The variation in phenotypes most likely depends on the number of 
      abnormal cells and their location in body tissues. In this paper we report the 
      case of a 42-year-old patient with Klinefelter syndrome and a rare variant mosaic 
      XXY/XX karyotype initially identified by GTG-banding. This was confirmed by 
      fluorescence in situ hybridization (FISH) using a dual-color X/Y probe. The 
      patient presented with erectile dysfunction and few other physical findings. 
      Thus, this case illustrates a rare variant of Klinefelter syndrome with a 
      relatively mild phenotype. It also illustrates the utility of FISH as an adjunct 
      to conventional cytogenetics in assessing the chromosome copy number in each cell 
      line of a mosaic. In our case, FISH also detected the presence of a small 
      population of cells with the XY karyotype not previously detected in the initial 
      30-cell GTG-banding analysis. Thus, through a combination of GTG-banding and 
      FISH, the patient was determined to be an XXY/XX/XY mosaic. Given that most 
      individuals with Klinefelter syndrome are infertile, and that these individuals 
      may wish to reproduce with the aid of modern reproductive technology, such as 
      testicular fine needle aspiration and intracytoplasmic sperm injection, it is 
      important that accurate estimation of the frequency of abnormal cells be obtained 
      for accurate risk estimation and genetic counseling, as recent studies in 
      patients with mosaic Klinefelter syndrome revealed that germ cells with sex 
      chromosomal abnormalities were nevertheless capable of completing meiosis.
CI  - Copyright 1999 Academic Press.
FAU - Mark, H F
AU  - Mark HF
AD  - Lifespan Academic Medical Center Cytogenetics Laboratory, Department of 
      Pathology, Rhode Island Hospital, Providence, Rhode Island 02903, USA.
FAU - Bai, H
AU  - Bai H
FAU - Sotomayor, E
AU  - Sotomayor E
FAU - Mark, S
AU  - Mark S
FAU - Zolnierz, K
AU  - Zolnierz K
FAU - Airall, E
AU  - Airall E
FAU - Sigman, M
AU  - Sigman M
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - Netherlands
TA  - Exp Mol Pathol
JT  - Experimental and molecular pathology
JID - 0370711
SB  - IM
MH  - Adult
MH  - *Chromosome Banding
MH  - *Chromosome Painting
MH  - Humans
MH  - Karyotyping
MH  - Klinefelter Syndrome/*genetics
MH  - Male
MH  - Mosaicism/genetics
MH  - X Chromosome/*genetics
MH  - Y Chromosome/*genetics
EDAT- 1999/09/24 00:00
MHDA- 1999/09/24 00:01
CRDT- 1999/09/24 00:00
PHST- 1999/09/24 00:00 [pubmed]
PHST- 1999/09/24 00:01 [medline]
PHST- 1999/09/24 00:00 [entrez]
AID - S0014-4800(99)92244-X [pii]
AID - 10.1006/exmp.1999.2244 [doi]
PST - ppublish
SO  - Exp Mol Pathol. 1999 Sep;67(1):50-6. doi: 10.1006/exmp.1999.2244.