Transmissible microdeletion of the Y-chromosome encompassing two DAZ copies, four RBMY1 copies, and both PRY copies.
OBJECTIVE
To study a transmissible partial AZFb and -c microdeletion.


METHODS
Case report.


METHODS
Service of Reproductive Medicine, Molecular Biology, CHU Lyon, France.


METHODS
A case of oligoasthenospermia with partial spermatogenic failure. Screening for Yq microdeletions revealed the absence of sY143, suggesting an AZFb microdeletion.


METHODS
Sequence-tagged site mapping indicated that the deletion encompassed a portion of the AZFb and -c region. Genomic DNA from the patient's father gave the same pattern. During the course of these investigations, a pregnancy occurred. On the 46,XY amniocyte and cord blood DNA, the same microdeletion was found.


METHODS
Study of the fine structure of the Y-chromosome and the gene copy number.


RESULTS
The three males of this family have a rearrangement including a deletion encompassing r3 and r4, the palindrome P3, and its boundary regions: u3 and u1 in its distal part. This induced a reduction in DAZ and RBMY1 copy number and complete loss of PRY.


CONCLUSIONS
PRY is not indispensable to complete spermatogenesis; and with two RBMY1 and two DAZ copies, complete spermatogenesis can be conserved.
Plotton
Ingrid
I
Service d'Endocrinologie Moléculaire et Maladies Rares, Groupement Hospitalier Est, CHU de Lyon, Lyon, France. ingrid.plotton@chu-lyon.fr
Ducros
Claude
C
Pugeat
Michel
M
Morel
Yves
Y
Lejeune
Hervé
H
D000328:Adult; D002872:Chromosome Deletion; D041322:Chromosomes, Human, Y / Q000235:genetics; D000075364:Deleted in Azoospermia 1 Protein; D018628:Gene Dosage; D050173:Genes, Y-Linked / Q000235:genetics*; D006801:Humans; D007248:Infertility, Male; D040582:Inheritance Patterns / Q000235:genetics; D008297:Male; D009687:Nuclear Proteins / Q000235:genetics*; D009845:Oligospermia / Q000235:genetics; D016601:RNA-Binding Proteins / Q000235:genetics*; D012729:Sex Chromosome Aberrations; D058533:Sex Chromosome Disorders of Sex Development / Q000235:genetics
C095668:DAZ1 protein, human; D000075364:Deleted in Azoospermia 1 Protein; D009687:Nuclear Proteins; C501499:RBMY1A1 protein, human; D016601:RNA-Binding Proteins