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Titolo:
Meiotic segregation analysis by FISH investigation of spermatozoa of a 46,Y,der(X),t(X;Y)(qter -> p22 :: q11 -> qter) carrier
Autore:
Morel, F; Fellmann, F; Roux, C; Bresson, JL;
Indirizzi:
Ctr Hosp Univ St Jacques, EA Genet & Reprod 3185, F-25030 Besancon, FranceCtr Hosp Univ St Jacques Besancon France F-25030 -25030 Besancon, France Fac Med, Besancon, France Fac Med Besancon FranceFac Med, Besancon, France CECOS, Serv Cytogenet Immunocytol Biol Dev & Reprod, Besancon, France CECOS Besancon France t Immunocytol Biol Dev & Reprod, Besancon, France
Titolo Testata:
CYTOGENETICS AND CELL GENETICS
fascicolo: 1-2, volume: 92, anno: 2001,
pagine: 63 - 68
SICI:
0301-0171(2001)92:1-2<63:MSABFI>2.0.ZU;2-#
Fonte:
ISI
Lingua:
ENG
Soggetto:
IN-SITU-HYBRIDIZATION; X-Y TRANSLOCATION; STEROID SULFATASE DEFICIENCY; CHONDRODYSPLASIA PUNCTATA; MENTAL-RETARDATION; CHROMOSOME SEGREGATION; X/Y TRANSLOCATION; LINKED ICHTHYOSIS; SPERM NUCLEI; ANEUPLOIDY;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
28
Recensione:
Indirizzi per estratti:
Indirizzo: Bresson, JL Ctr Hosp Univ St Jacques, Cytogenet Serv, F-25030 Besancon, France Ctr Hosp Univ St Jacques Besancon France F-25030 con, France
Citazione:
F. Morel et al., "Meiotic segregation analysis by FISH investigation of spermatozoa of a 46,Y,der(X),t(X;Y)(qter -> p22 :: q11 -> qter) carrier", CYTOG C GEN, 92(1-2), 2001, pp. 63-68

Abstract

Chromosome analysis performed on a 30-year-old man revealed a 46,Y,der(X),t(X;Y)(qter --> p22::q11 --> qter) karyotype, confirmed by fluorescence in situ hybridization (FISH). The man was of short stature, and no mental retardation was noticed; genitalia and testes were normal, as were the patient's FSH, LH, and testosterone blood levels. Sperm analysis showed azoospermiaat the time of the first sampling and severe oligozoospermia, with 125,000spermatozoa/milliliter, at the time of the second sampling. The sperm gonosomal complement of this patient and of a 46,XY donor were analyzed using multicolor FISH with X- and Y-chromosome probes. Our results clearly indicated that germinal cells carrying the translocation are able to complete the meiotic process by producing spermatozoa compatible with normal embryonic development, with more than 80 % of the spermatozoa having either a Y chromosome or a der(X); however, a high level of spermatozoa with gonosomal disomies was observed. We also found a significant increase in the frequency of autosomal disomies in the carrier, which would suggest an interchromosomal effect. All previously reported cases in adult males were associated with azoospermia; testicular histological studies, performed in patients carryingthe same X;Y translocation, showed spermatogenetic arrest after pachytene. To our knowledge, this is the first molecular analysis of the gonosomal complement in spermatozoa of men with a t(X;Y)(qter --> p22::q11 --> qter). Copyright (C) 2001 S. Karger AG, Basel.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 29/09/20 alle ore 10:31:04