PMID- 12224075
OWN - NLM
STAT- MEDLINE
DCOM- 20030211
LR  - 20061115
IS  - 0197-3851 (Print)
IS  - 0197-3851 (Linking)
VI  - 22
IP  - 9
DP  - 2002 Sep
TI  - Prenatal and postnatal characterization of Y chromosome structural anomalies by 
      molecular cytogenetic analysis.
PG  - 802-5
AB  - We describe three cases in which we used fluorescence in situ hybridization 
      (FISH), polymerase chain reaction (PCR) and comparative genomic hybridization 
      (CGH) to characterize Y chromosome structural anomalies, unidentifiable by 
      conventional G-banding. Case 1 was a 46,X,+mar karyotype; FISH analysis revealed 
      an entire marker chromosome highlighted after hybridization with the Y chromosome 
      painting probe. The PCR study showed the presence of Y chromosome markers AMG and 
      SY620 and the absence of SY143, SY254 and SY147. CGH results confirmed the loss 
      of Yq11.2-qter. These results indicated the presence of a deletion: 
      del(Y)(q11.2). Case 2 was a 45,X [14]/46,XY[86] karyotype with a very small Y 
      chromosome. The PCR study showed the presence of Y chromosome markers SY620 and 
      AMG, and the absence of SY143, SY254 and SY147. CGH results showed gain of 
      Yq11.2-pter and loss of Yq11.2-q12. These results show the presence of a Yp 
      isodicentric: idic(Y)(q11.2). Case 3 was a 
      45,X,inv(9)(p11q12)[30]/46,X,idic(Y)(p11.3?),inv(9)(p11q12)[70] karyotype. The 
      FISH signal covered all the abnormal Y chromosome using a Y chromosome paint. The 
      PCR study showed the presence of Y chromosome markers AMG, SY620, SY143, SY254 
      and SY147. CGH only showed gain of Yq11.2-qter. These results support the 
      presence of an unbalanced (Y;Y) translocation. Our results show that the combined 
      use of molecular and classical cytogenetic methods in clinical diagnosis may 
      allow a better delineation of the chromosome regions implicated in specific 
      clinical disorders.
CI  - Copyright 2002 John Wiley & Sons, Ltd.
FAU - Hernando, C
AU  - Hernando C
AD  - Unitat de Biologia, Facultat de Medicina, Universitat Autonoma de Barcelona, 
      E-08193 Bellaterra, Barcelona, Spain.
FAU - Carrera, M
AU  - Carrera M
FAU - Ribas, I
AU  - Ribas I
FAU - Parear, N
AU  - Parear N
FAU - Baraibar, R
AU  - Baraibar R
FAU - Egocue, J
AU  - Egocue J
FAU - Fuster, C
AU  - Fuster C
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - England
TA  - Prenat Diagn
JT  - Prenatal diagnosis
JID - 8106540
RN  - 0 (Genetic Markers)
RN  - 9007-49-2 (DNA)
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - *Amniocentesis
MH  - Chromosome Banding
MH  - Chromosomes, Human, Y/*genetics
MH  - DNA/analysis
MH  - Female
MH  - Genetic Markers
MH  - Humans
MH  - *In Situ Hybridization, Fluorescence
MH  - *Polymerase Chain Reaction
MH  - Pregnancy
MH  - Sex Chromosome Aberrations/*embryology
EDAT- 2002/09/12 10:00
MHDA- 2003/02/13 04:00
CRDT- 2002/09/12 10:00
PHST- 2002/09/12 10:00 [pubmed]
PHST- 2003/02/13 04:00 [medline]
PHST- 2002/09/12 10:00 [entrez]
AID - 10.1002/pd.415 [doi]
PST - ppublish
SO  - Prenat Diagn. 2002 Sep;22(9):802-5. doi: 10.1002/pd.415.