Klinefelter Syndrome with Azoospermia：Identiﬁcation of a Neocentromic Y Chromosome with No Detectable DYZ3 Centromeric Sequence

Abstract Background Individuals with rare cytogenetic variants have contributed to our understanding of the genetics of sex chromosome and its disorders. Here, we report on a 23 years old man with a de novo 47,XX,+mar.ish der(Y)neo(Y)(pter-->p11.2::q11.23-->neo-->q11.23-->qter)(DYZ3-,SRY+,WCPY+) chromosome complement, accompanying with azoospermia and some of other clinical features suggestive of Klinefelter's Syndrome. The constitution of the patient was verified by GTG-banding, QFQ-banding, Fluorescence in Situ Hybridization and Polymerase Chain Reaction. Accordingly, we report the finding of a structurally abnormal chromosome Y with no detectable DYZ3 centromeric sequence and with no detection of AZF a, AZF b and AZF c, with clinical features suggestive of Klinefelter's Syndrome. This is the first reported case of Klinefelter's Syndrome involving a neocentromic Y among previously described cases with a neocentromere. Case presentation we report on a 23 years old man with a de novo 47,XX,+mar.ish der(Y)neo(Y)(pter-->p11.2::q11.23-->neo-->q11.23-->qter)(DYZ3-,SRY+,WCPY+) chromosome complement, accompanying with azoospermia and some of other clinical features suggestive of Klinefelter's Syndrome. The constitution of the patient was verified by GTG-banding, QFQ-banding, Fluorescence in Situ Hybridization FISH and Polymerase Chain Reaction PCR. Conclusions It can be inferred that a neocentromic Y is formed by identification of FISH, PCR and the fact that this markerof Y chromosome is present in 100% of peripheral blood cells and has been efficiently retained through cell divisions despite the absence of the endogenous centromere region. To our knowledge, this is the first reported case of Klinefelter's Syndrome involving a neocentromic Y among previously described cases with a neocentromere, which adds to the catalog of chromosomal aberrations. The present study not only improves the understanding of karyotype/phenotype relationships between neocentric marker Y chromosomes and KFS male infertility, but also supports the hypothesis that the combined application of molecular cytogenetic analysis might help to identify breakpoints, origins, and the constitution of the marker chromosomes.

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High performance Nanogold™-in situ hybridzation and its use in the detection of hybridized and PCR-amplified microscopical preparations

Proceedings, annual meeting, Electron Microscopy Society of America ◽

10.1017/s0424820100166944 ◽

1996 ◽

Vol 54 ◽

pp. 896-897

Author(s):

G. W. Hacker ◽

I. Zehbe ◽

J. Hainfeld ◽

A.-H. Graf ◽

C. Hauser-Kronberger ◽

...

Keyword(s):

Polymerase Chain Reaction ◽

Messenger Rna ◽

High Performance ◽

Detection System ◽

Direct Methods ◽

Genetic Alterations ◽

Chain Reaction ◽

Protein Encoding ◽

Polymerase Chain

In situ hybridization (ISH) with biotin-labeled probes is increasingly used in histology, histopathology and molecular biology, to detect genetic nucleic acid sequences of interest, such as viruses, genetic alterations and peptide-/protein-encoding messenger RNA (mRNA). In situ polymerase chain reaction (PCR) (PCR in situ hybridization = PISH) and the new in situ self-sustained sequence replication-based amplification (3SR) method even allow the detection of single copies of DNA or RNA in cytological and histological material. However, there is a number of considerable problems with the in situ PCR methods available today: False positives due to mis-priming of DNA breakdown products contained in several types of cells causing non-specific incorporation of label in direct methods, and re-diffusion artefacts of amplicons into previously negative cells have been observed. To avoid these problems, super-sensitive ISH procedures can be used, and it is well known that the sensitivity and outcome of these methods partially depend on the detection system used.

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