Duplication Xp22.2 and pseudoisodicentric Yq detected by FISH and PCR in a sterile male

G. Palka; G. Calabrese; R. Mingarelli; P. Guanciali Franchi; L. Stuppia; E. Morizio; R. Peila; A. Antonucci

Duplication Xp22.2 and pseudoisodicentric Yq detected by FISH and PCR in a sterile male

G. Palka, G. Calabrese, R. Mingarelli, P. Guanciali Franchi, L. Stuppia, E. Morizio, R. Peila, A. Antonucci

Ospedale Pediatrico Bambino Gesu

Research output: Contribution to journal › Article › peer-review

Abstract

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.

Original language	English
Pages (from-to)	213-216
Number of pages	4
Journal	Clinical Genetics
Volume	48
Issue number	4
Publication status	Published - 1995

Keywords

Fluorescence in situ hybridization
Polymerase chain reaction
X and Y chromosomes duplication

ASJC Scopus subject areas

Genetics
Genetics(clinical)

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title = "Duplication Xp22.2 and pseudoisodicentric Yq detected by FISH and PCR in a sterile male",

abstract = "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.",

keywords = "Fluorescence in situ hybridization, Polymerase chain reaction, X and Y chromosomes duplication",

author = "G. Palka and G. Calabrese and R. Mingarelli and {Guanciali Franchi}, P. and L. Stuppia and E. Morizio and R. Peila and A. Antonucci",

year = "1995",

language = "English",

volume = "48",

pages = "213--216",

journal = "Clinical Genetics",

issn = "0009-9163",

publisher = "Wiley-Blackwell Publishing Ltd",

number = "4",

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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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