Case report: Natural transmission of an AZFc Y-chromosomal microdeletion from father to his sons

Human Reproduction

Volumn 19, Issue 4, 2004, Pages 886-888

  Kuhnert B ^a   Gromoll, J ^a   Kostova, E ^a   Tschanter, P ^a   Luetjens, C M ^a   Simoni, M ^a   Nieschlag, E ^a  

^a INST OF REPRO MED OF THE UNIV   (Germany)

Author keywords

AZFc Y choromosomal microdeletion; DAZL gene polymorphism; Natural transmission; Spermatogenesis

Indexed keywords

ADULT; AGED; ARTICLE; AZOOSPERMIA; CASE REPORT; CHROMOSOME DELETION Y; DISEASE ASSOCIATION; ENVIRONMENTAL FACTOR; EXON; GENE IDENTIFICATION; GENE SEQUENCE; GENETIC SCREENING; GENOTYPE; HEREDITY; HUMAN; MALE; MALE INFERTILITY; OLIGOSPERMIA; PROGENY; SEQUENCE ANALYSIS; SEQUENCE HOMOLOGY; SINGLE NUCLEOTIDE POLYMORPHISM; SPERMATOGENESIS;

EID: 1842584994     PISSN: 02681161     EISSN: None     Source Type: Journal    
DOI: 10.1093/humrep/deh186     Document Type: Article

References (15)

1. Calogero AE, Garofalo MR, Barone N, Longo GA, De Palma A, Fichera M, Rappazzo G, D'Agata R and Vicari E (2002) Spontaneous transmission from a father to his son of a Y chromosome microdeletion involving the deleted in azoospermia (DAZ) gene. J Endocrinol Invest 25,631-634.
2. Chang PL, Sauer MV and Brown S (1999) Y chromosome microdeletion in a father and his four infertile sons. Hum Reprod 14,2689-2694.
3. Foresta C, Moro E and Ferlin A (2001) Y chromosome microdeletions and alterations of spermatogenesis. Endocr Rev 22,226-239.
4. Gatta V, Stuppia L, Calabrese G, Morizio E, Guanciali-Franchi P and Palka G (2002) A new case of Yq microdeletion transmitted from a normal father to two infertile sons. J Med Genet 39,E27.
5. Kamischke A, Gromoll J, Simoni M, Behre HM and Nieschlag E (1999) Transmission of a Y chromosomal deletion involving the deleted in azoospermia (DAZ) and chromodomain (CDY1) genes from father to son through intracytoplasmic sperm injection: Case report. Hum Reprod 14,2320-2322.
6. Krausz C, Forti G and McElreavey K (2003) The Y chromosome and male fertility and infertility. Int J Androl 26,70-75.
7. Kuroda-Kawaguchi T, Skaletsky H, Brown LG, Minx PJ, Cordum HS, Waterston RH, Wilson RK, Silber S, Oates R, Rozen S et al. (2001) The AZFc region of the Y chromosome features massive palindromes and uniform recurrent deletions in infertile men. Nat Genet 29,279-286.
8. Luetjens CM, Gromoll J, Engelhardt M, von Eckardstein S, Bergmann M, Nieschlag E and Simoni M (2002) Manifestation of Y-chromosomal deletions in the human testis: A morphometrical and immunohistochemical evaluation. Hum Reprod 17,2258-2266.
9. Oates RO, Silber S, Brown LG, Page DC (2002) Clinical characterization of 42 oligospermic or azoospermic men with microdeletion of the AZFc region of the Y chromosome, and of 18 children concieved via ICSI. Hum Reprod 17,2813-2824.
10. Repping S, Skaletsky H, Brown L, Van Daalen SK, Korver CM, Pyntikova T, Kuroda-Kawaguchi T, De Vries JW, Oates RD, Silber S et al. (2003) Polymorphism for a 1.6-Mb deletion of the human Y chromosome persists through balance between recurrent mutation and haploid selection. Nat Genet 35,247-251.
11. Saut N, Terriou P, Navarro A, Lévy N, Mitchell MJ (2000) The human Y chromosome genes BPY2, CDY1 and DAZ are not essential for sustained fertility. Mol Hum Reprod 6,789-793.
12. Simoni M, Gromoll J, Dworniczak B, Rolf C, Abshagen K, Kamischke A, Carani C, Meschede D, Behre HM, Horst J et al. (1997) Screening for deletions of the Y chromosome involving the DAZ (Deleted in AZoospermia) gene in azoospermia and severe oligozoospermia. Fertil Steril 67,542-547.
13. Simoni M, Bakker E, Eurlings MCM, Matthijs G, Moro E, Müller CR, Vogt PH (1999) Laboratory guidelines for molecular diagnosis of Y-chromosomal microdeletions. Int J Androl 22,292-299.
14. Stuppia L, Calabrese G, Guanciali Franchi P, Mingarelli R, Gatta V, Palka G, Dallapiccola B (1996) Widening of a Y-chromosome interval-6 deletion transmitted from a father to his infertile sons accounts for an oligozoospermia critical region distal to the RBM1 and DAZ genes. Am J Hum Genet 59,1393-1395.
15. Teng YN, Lin YM, Lin YH, Tsao SY, Hsu CC, Lin SJ, Tsai WC, Kuo PL (2002) Association of a single-nucleotide polymorphism of the deleted-in-azoospermia-like gene with susceptibility to the spermatogenic failure. J Clin Endocrinol Metab 87,5258-5264.