• PMID: 9620831
• Gene Name: DAZ1
• Condition: Infertility
• Association: The study concludes that FISH analysis is useful in detection of Y chromosome deletions and rearrangements
• Mutation: Y chromosome deletion
• Population size: 1
• Population details: 1 cryptozoospermia
• Age: 38
• Sex: Male
• Infertility type: Male infertility
• Associated genes: AZFc region
• Other associated phenotypes: Cryptozoospermia

Interstitial and terminal deletion of chromosome Y in a male individual with cryptozoospermia

Duell T, Mathews S, Wunderlich B, Mittermüller J, Schmetzer H.

A constitutional de-novo deletion of the long arm of the Y chromosome was detected by standard cytogenetic analysis in a 38-year old male who, except for small testes and cryptozoospermia, was phenotypically normal. The deletion was further characterized by fluorescent in-situ hybridization (FISH) and digital image analysis using contigs of overlapping yeast artificial chromosome (YAC) clones, spanning almost the entire Y chromosome. These results showed that the deletion involved a large interstitial segment on the proximal long arm of the Y chromosome (Yq11.1-->Yq11.22) as well as a more distal portion of the Y chromosome, including the entire heterochromatic region (Yq11.23-->qter). The breakpoints as determined by the YAC probes were defined within the published Vergnaud intervals so that region 6B and 6C was mostly retained. However, the AZFc region harbouring the DAZ locus on distal subinterval 6F was lost in the deletion, making the absence of this region the most probable location for the patient's infertility. The data underline the usefulness of FISH as an alternative technique to conventional banding for the refined detection of chromosome Y deletions/rearrangements. FAU - Duell, T AU - Duell T AD - Medizinische Klinik III, Ludwig-Maximilians-Universität, München, Germany. FAU - Mathews, S AU - Mathews S FAU - Wunderlich, B AU - Wunderlich B FAU - Mittermüller, J AU - Mittermüller J