PMID- 9763660
OWN - NLM
STAT- MEDLINE
DCOM- 19981106
LR  - 20180213
IS  - 0301-0171 (Print)
IS  - 0301-0171 (Linking)
VI  - 82
IP  - 1-2
DP  - 1998
TI  - Pathogenetics of 45,X/46,XY gonadal mosaicism.
PG  - 52-7
AB  - Five patients with 45,X/46,XY mosaicism ranging from 8% to 66% of 46, XY 
      lymphocytes in the peripheral blood were studied. Their age when chromosome 
      studies were performed ranged from a few days to 37 yr. The phenotypic 
      presentations were two females with gonadal dysgenesis and Turner syndrome 
      features (cases 1 and 2), two males with ambiguous genitalia and mixed gonadal 
      dysgenesis (cases 3 and 4), and an infertile male with an atrophic testis (case 
      5). Fluorescence in situ hybridization (FISH) using dual-color X and Y probes on 
      paraffin-embedded sections of the gonads was performed to assess mosaicism. A 
      mosaic cell line with a Y chromosome was present in the streak ovary, dysgenetic 
      gonad, and testis. In the mixed gonadal dysgenesis cases (cases 3 and 4), the 
      testis had a higher percentage (greater than two fold) of XY cells than the ovary 
      had. However, the highest ratio of cells with a Y chromosome was in the atrophic 
      testis of the infertile male (case 5). The distribution of mosaic clones in the 
      different gonadal cell types was examined. Both females (cases 1 and 2) with 
      dysgenetic gonads had scant ovarian stroma and nests of Leydig or hilus cells. In 
      FISH studies, the coelomic epithelial cells were predominantly 46,XY; in 
      comparison, the Leydig and hilus cells had a lower percentage and the ovarian 
      stroma the least number of cells with a Y signal. A mixed gonadal dysgenesis case 
      (case 3) possessed a right testis with an XY complement in approximately 21% of 
      Sertoli cells and approximately 14% of Leydig cells. The infertile male had an 
      atrophic testis with interstitial hyperplasia (case 5). His testis contained 
      Sertoli cells but no evidence of spermatogenesis. FISH detected a Y signal in 
      about 50-60% of the Sertoli and Leydig cells.
FAU - Reddy, K S
AU  - Reddy KS
AD  - Cytogenetic Laboratory, Quest Diagnostics Inc., San Juan Capistrano, CA, USA. 
      reddyQquestidiagnostics.com
FAU - Sulcova, V
AU  - Sulcova V
LA  - eng
PT  - Journal Article
PL  - Switzerland
TA  - Cytogenet Cell Genet
JT  - Cytogenetics and cell genetics
JID - 0367735
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Child, Preschool
MH  - Female
MH  - Genitalia/abnormalities
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infertility, Male/genetics/pathology
MH  - Male
MH  - *Mosaicism
MH  - *Sex Chromosome Aberrations
MH  - Stromal Cells/pathology
MH  - Testis/pathology
MH  - Turner Syndrome/genetics/pathology
MH  - *X Chromosome
MH  - *Y Chromosome
EDAT- 1998/10/09 02:00
MHDA- 2000/08/16 11:00
CRDT- 1998/10/09 02:00
PHST- 1998/10/09 02:00 [pubmed]
PHST- 2000/08/16 11:00 [medline]
PHST- 1998/10/09 02:00 [entrez]
AID - ccg82052 [pii]
AID - 10.1159/000015064 [doi]
PST - ppublish
SO  - Cytogenet Cell Genet. 1998;82(1-2):52-7. doi: 10.1159/000015064.