TY - JOUR
T1 - Duplication Xp22.2 and pseudoisodicentric Yq detected by FISH and PCR in a sterile male
AU - Palka, G.
AU - Calabrese, G.
AU - Mingarelli, R.
AU - Guanciali Franchi, P.
AU - Stuppia, L.
AU - Morizio, E.
AU - Peila, R.
AU - Antonucci, A.
PY - 1995
Y1 - 1995
N2 - A chromosome mosaicism with two cell lines was diagnosed in a sterile man. One cell line had a 45,-Y, dup (X) (p22.2) karyotype and accounted for 83% of lymphocytes analyzed. Fluorescence in situ hybridization (FISH) analysis with specific X and Y probes excluded a translocation between the short arms of the X and Y chromosomes and showed that Xp duplication involved a region containing the DXS85 locus, distal to the ZFX and DSS sites. The other cell line consisted of a diploid karyotype with a rearranged Y chromosome, which was shown to be a pseudoisodicentric Yq by FISH. Moreover, FISH with a specific probe for the AZF locus and polymerase chain reaction using Yq SY108 and SY121 primers showed no signals for this region, possibly accounting for the azoospermia in this patient.
AB - A chromosome mosaicism with two cell lines was diagnosed in a sterile man. One cell line had a 45,-Y, dup (X) (p22.2) karyotype and accounted for 83% of lymphocytes analyzed. Fluorescence in situ hybridization (FISH) analysis with specific X and Y probes excluded a translocation between the short arms of the X and Y chromosomes and showed that Xp duplication involved a region containing the DXS85 locus, distal to the ZFX and DSS sites. The other cell line consisted of a diploid karyotype with a rearranged Y chromosome, which was shown to be a pseudoisodicentric Yq by FISH. Moreover, FISH with a specific probe for the AZF locus and polymerase chain reaction using Yq SY108 and SY121 primers showed no signals for this region, possibly accounting for the azoospermia in this patient.
KW - Fluorescence in situ hybridization
KW - Polymerase chain reaction
KW - X and Y chromosomes duplication
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M3 - Article
C2 - 8591674
AN - SCOPUS:0028866598
VL - 48
SP - 213
EP - 216
JO - Clinical Genetics
JF - Clinical Genetics
SN - 0009-9163
IS - 4
ER -