8.5 Mb deletion at distal 5p in a male ascertained for azoospermia

American Journal of Medical Genetics

Volumn 133 A, Issue 2, 2005, Pages 189-192

  Rossi, Elena ^a   De Gregori, Manuela ^a   Patricelli, Maria Grazia ^a   Pramparo, Tiziano ^a   Argentiero, Luisa ^b   Giglio, Sabrina ^c   Sosta, Katiuscia ^d   Foresti, Giovanni ^e   Zuffardi, Orsetta ^a,f  

^a UNIVERSITY OF PAVIA   (Italy)

^b Servizio Prevenzione e Sicurezza Negli Ambienti   (Italy)

^c SAN RAFFAELE HOSPITAL   (Italy)

^d IRCCS ISTITUTO CENTRO SAN GIOVANNI DI DIO FATEBENEFRATELLI   (Italy)

^e Ctro Sacro Cuore Gesu F   (Italy)

^f FONDAZIONE IRCCS POLICLINICO SAN MATTEO   (Italy)

Author keywords

5p deletion; Azoospermic male; Fish analysis; Neuropsychological assessment

Indexed keywords

ADULT; ARTICLE; AZOOSPERMIA; CASE REPORT; CAT CRY SYNDROME; CHROMOSOME 5P; CHROMOSOME ARM; CHROMOSOME DELETION 5; CLINICAL FEATURE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE MAPPING; GENOTYPE PHENOTYPE CORRELATION; HUMAN; MALE; MENTAL DEFICIENCY; NEUROPSYCHOLOGICAL TEST; PRIORITY JOURNAL; PSYCHOLOGIC ASSESSMENT; TELOMERE;

ADULT; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 5; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MALE; OLIGOSPERMIA;

FELIS CATUS;

EID: 14044249492     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30519     Document Type: Article

References (20)

1. Baccichetti C, Lenzini E, Artifoni L, Caufin D, Marangoni P. 1988. Terminal deletion of the short arm of chromosome 5. Clin Genet 34:219-223.
2. Burgoyne PS, Baker TG. 1984. Meiotic pairing and gametogenic failure. Symp Soc Exp Biol 38:349-362.
3. Cerruti Mainardi P, Perfumo C, Cali A, Coucourde G, Pastore G, Cavani S, Zara F, Overhauser J, Pierluigi M, Bricarelli FD. 2001. Clinical and molecular characterisation of 80 patients with 5p deletion: Genotype-phenotype correlation. J Med Genet 38:151-158.
4. Church DM, Bengtsson U, Nielsen KV, Wasmuth JJ, Niebuhr E. 1995. Molecular definition of deletions of different segments of distal 5p that result in distinct phenotypic features. Am J Hum Genet 56:1162-1172.
5. Cornish KM, Bramble D, Munir F, Pigram J. 1999a. Cognitive functioning in children with typical cri du chat (5p-) syndrome. Dev Med Child Neurol 41(4):263-266.
6. Cornish KM, Cross G, Green A, Willatt L, Bradshaw JM. 1999b. A neuropsychological-genetic profile of atypical cri du chat syndrome: Implications for prognosis. J Med Genet 36:567-570.
7. Gersh M, Goodart SA, Pasztor LM, Harris DJ, Weiss L, Overhauser J. 1995. Evidence for a distinct region causing a cat-like cry in patients with 5p deletions. Am J Hum Genet 56:1404-1410.
8. Higurashi M, Oda M, Iijima K, Iijima S, Takeshita T, Watanabe N, Yoneyama K. 1990. Livebirth prevalence and follow-up of malformation syndromes in 27,472 newborns. Brain Dev 12:770-773.
9. Krausz C, Forti G, McElreavey K. 2003. The Y chromosome and male fertility and infertility. Int J Androl 26:70-75, Review.
10. Lejeune J, Lafourcade J, Berger R, Vialatte J, Boewillwald M, Seringe P, Turpin R. 1963. 3 cases of partial deletion of the short arm of a 5 chromosome. CR Hebd Seances Acad Sci 257:3098-3102.
11. Lejeune J, Lafourcade J, De Grouchy J, Berger R, Gautier M, Salmon C, Turpin R. 1964. Partial deletion of the short arm of a chromosome 5. Individualization of a new morbid state. Sem Hop 40:1069-1079.
12. Lezak MD. 1995. Neuropsychological assessment, 3rd edn. New York: Oxford University Press.
13. Niebuhr E. 1978. The cri du chat syndrome: Epidemiology, cytogenetics, and clinical features. Hum Genet 44:227-275.
14. Overhauser J, Huang X, Gersh M, Wilson W, McMahon J, Bengtsson U, Rojas K, Meyer M, Wasmuth JJ. 1994. Molecular and phenotypic mapping of the short arm of chromosome 5: Sublocalization of the critical region for the cri-du-chat syndrome. Hum Mol Genet 3:247-252.
15. Schinzel A. 2001. Catalogue of unbalanced chromosome aberrations in man, 2nd edn. Berlin, New York: de Gruyter.
16. Smith A, Field B, Murray R, Nelson J. 1990. Two cases of cri-du-chat syndrome with mild phenotypic effect but with different size of 5p deletion. J Paediatr Child Health 26:152-154.
17. Spinnler H, Tognoni G. 1987. Standardizzazione e taratura italiana di test neuropsicologici. Italian J Neurol Sci 6(Suppl 8):1-120.
18. Stathopulu E, Ogilvie CM, Flinter FA. 2003. Terminal deletion of chromosome 5p in a patient with phenotypical features of Lujan-Fryns syndrome. Am J Med Genet 119A:363-366.
19. Van Assche E, Bonduelle M, Tournaye H, Joris H, Verheyen G, Devroey P, et al. 1996. Cytogenetics of infertile men. Hum Reprod 11(Suppl 4):1-24.
20. Zuffardi O, Tiepolo L. 1982. Frequencies and types of chromosome abnormalities assciated with human male infertility. In: Crosignani PG, Rubin BL, editors. Genetic control of gamete production and function. London, Toronto, Sydney: Academic press, New York, San Francisco: Grune & Stratton. pp 261-273.