Familial inv(1)(p3500q21.3) associated with azoospermia

Rivera, Horacio; Mc, Alvarez-Arratia; Moller, M; Diaz, M del Carmen; Jm, Cantú

doi:10.1007/bf00286593

Cited by 15 publications

(7 citation statements)

References 32 publications

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“…The gene is located on chromosome 1 and plays an important role in spermatogenesis, such as SCP‐1, 22 MSH4, 23 IPP 24 and MMP‐23 25 . There are also some reports of pericentric inversion of chromosome 1 in familial azoospermia or sterile brothers 26,27 . However, seminal analysis of this variant revealed that only 30% (9/30) of the study population were azoospermic and three patients with this variation achieved natural pregnancy.…”

Section: Discussionmentioning

confidence: 88%

Chromosomal variants among 1790 infertile men

et al. 2001

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Background: The largest cytogenetic survey involving infertile men was undertaken to clarify whether chromosomal abnormalities, including autosomal abnormalities, affect semen qualities. Method: All male patients who visited an infertility clinic from 1990 to 1998 underwent chromosomal and semen analysis. Results: Chromosomal abnormalities were found in 225 of 1790 patients (12.6%). The most frequent anomaly was Klinefelter syndrome (64 cases). Autosomal anomalies accounted for 126 cases. 46,XY,1qh(+) was the most common autosomal anomaly (30 cases) and its incidence was significantly higher than those of normal controls. The seminograms of these patients varied widely, with nine patients having azoospermia and three patients achieving natural pregnancies. Itis not yet clear if this karyotype affects spermatogenesis. Conclusion: Autosomal anomalies as well as sex chromosomal abnormalities might affect spermatogenesis. Cytogenetic study is important before intracytoplasmic sperm injection.

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Section: Discussionmentioning

confidence: 88%

Chromosomal variants among 1790 infertile men

et al. 2001

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“…Several families with multiple subfertile male family members have been described suggesting a genetic origin of male subfertility (Chaganti and German, 1979;Leonard et al, 1979;Shabtai et al, 1980;Cantu et al, 1981;Rivera et al, 1984;Meschede et al, 1994;Chang et al, 1999;Saut et al, 2000;Rolf et al, 2002;Tuerlings et al, 2002;Gianotten et al, 2003). In two families, an autosomal recessive mode of inheritance was suggested, but no cause for the shared infertility could be identi®ed (Chaganti and German, 1979;Cantu et al, 1981).…”

Section: Discussionmentioning

confidence: 99%

“…There is some evidence available for a genetic basis of male subfertility in humans, but this is still scarce. So far, several families with multiple subfertile male family members have been described in which a genetic defect segregates in the family (Chaganti and German, 1979;Leonard et al, 1979;Shabtai et al, 1980;Cantu et al, 1981;Rivera et al, 1984;Meschede et al, 1994;Chang et al, 1999;Saut et al, 2000;Rolf et al, 2002;Tuerlings et al, 2002;Gianotten et al, 2003). In addition, familial clustering of male subfertility has been observed in a case control study, which could be explained by an autosomal recessive mode of inheritance in the majority of cases (Lilford et al, 1994).…”

Section: Introductionmentioning

confidence: 99%

Familial clustering of impaired spermatogenesis: no evidence for a common genetic inheritance pattern

Gianotten

Westerveld²,

Leschot³

et al. 2004

Human Reproduction

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“…The list of previous cases, the breakpoints, and the clinical problems of the carriers are shown in Table I. Out of the 16 previous reports, the inversions were detected because of spermatogenic disturbances, such as azoospermia and oligozoospermia, in eight reports (Giraldo et al, 1981;Toth et al, 1982;Rivera et al, 1984;Guichaoua et al, 1985;Barros et al, 1986;Gabriel-Robez et al, 1986;Batanian and Hulten, 1987;Chandley et al, 1987) and because of recurrent abortions in three reports (Lyberatou-Moraitou et al, 1983;Johnson et al, 1988;Martin et al, 1994). In the other four reports, the probands of the inversion suffered from miscellaneous diseases, such as mucopolysaccharidosis (Lee et al, 1974), Fanconi's anemia (Crippa and Ferrier, 1975), dwarfism (Char and Chueng, 1978), and Goldenhar's syndrome (Stahl-Mauge et al, 1982).…”

Section: Discussionmentioning

confidence: 99%

Familial pericentric inversion incidentally detected at prenatal diagnosis

et al. 1995

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SummaryA case of familial heterozygous pericentric inversion of chromosome 1 [inv(1)(p13q23)] is presented. The inversion was incidentally detected in a fetus whose mother received prenatal chromosomal diagnosis due to her age (40 years old), and thereafter the same inversion was detected in the father whose phenotype was normal. No abnormalities were found in the phenotype of the newborn carrier. Semen analysis of the father revealed normal findings. The couple had no history of spontaneous abortion. Key Wordspericentric inversion, chromosome 1, prenatal diagnosis, semen analysis Pericentric inversion of chromosome 1 is an extremely rare chromosomal rearrangement of which only 16 cases have been reported. Herein, we report a new case of a Japanese family having heterozygous pericentric inversion of chromosome 1, the breakpoints of which were p13 and q23. This is the first case in which pericentric inversion of chromosome 1 was prenatally diagnosed. Case ReportA woman visited our clinic at Tohoku University Hospital for prenatal chromosomal diagnosis of her fetus because of her advanced age (40 years old). It was her first pregnancy. Phenotypes of her and her husband were normal.Amniocentesis was performed at the 16th gestational week and the amniocytes were cultured in Chang's media under 5 % CO 2 in air. The karyotype revealed the fetus to be a heterozygote with an pericentric inversion of chromosome I [46, XY,inv(1)(p13q23)] (Fig. 1). Based on the result, chromosomal examinations of the parents were consequently performed. Fetal blood cell karyotyping was carried out to deny any artifacts. Leukocytes of those samples were cultured in RPMI

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Familial inv(1)(p3500q21.3) associated with azoospermia

Cited by 15 publications

References 32 publications

Chromosomal variants among 1790 infertile men

Chromosomal variants among 1790 infertile men

Familial clustering of impaired spermatogenesis: no evidence for a common genetic inheritance pattern

Familial pericentric inversion incidentally detected at prenatal diagnosis

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