Literature DB >> 21465155

Small supernumerary marker chromosome (sSMC) derived from chromosome 22 in an infertile man with hypogonadotropic hypogonadism.

Ruth Mikelsaar1, Jelena Lissitsina, Oliver Bartsch.   

Abstract

We describe the first case of a supernumerary inv dup(22)(q11.1) in an infertile male with hypogonadotropic hypogonadism. This case supports the opinion that supernumerary inv dup(22)(q11.1) could play a role in male infertility. We suggest that the breakpoint in the region 22q11.1 and/or fourfold dosage of centromeric/pericentromeric sequences of the chromosome 22 may be the cause of hypogonadotropic hypogonadism resulting in impaired spermatogenesis and infertility in our patient.

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Year:  2011        PMID： 21465155     DOI： 10.1007/s13353-011-0041-5

Source DB:  PubMed          Journal:  J Appl Genet        ISSN： 1234-1983            Impact factor:   3.240


  19 in total

Review 1.  The genetic basis of infertility.

Authors:  Kavita Shah; Gayathri Sivapalan; Nicola Gibbons; Helen Tempest; Darren K Griffin
Journal:  Reproduction       Date:  2003-07       Impact factor: 3.906

2.  Chromosome studies in 1792 males prior to intra-cytoplasmic sperm injection: the Dutch experience.

Authors:  J H Tuerlings; H F de France; A Hamers; R Hordijk; J O Van Hemel; K Hansson; J M Hoovers; K Madan; M Van der Blij-Philipsen; K B Gerssen-Schoorl; J A Kremer; D F Smeets
Journal:  Eur J Hum Genet       Date:  1998 May-Jun       Impact factor: 4.246

Review 3.  Somatic chromosomal abnormalities in infertile men and women.

Authors:  U A Mau-Holzmann
Journal:  Cytogenet Genome Res       Date:  2005       Impact factor: 1.636

4.  Delineation of supernumerary marker chromosomes in 38 patients.

Authors:  R Viersbach; H Engels; U Gamerdinger; M Hansmann
Journal:  Am J Med Genet       Date:  1998-04-01

5.  Supernumerary marker chromosomes in man: parental origin, mosaicism and maternal age revisited.

Authors:  John A Crolla; Sheila A Youings; Sarah Ennis; Patricia A Jacobs
Journal:  Eur J Hum Genet       Date:  2005-02       Impact factor: 4.246

6.  Reciprocal translocation t(7;16)(q21.2;p13.3) in an infertile man.

Authors:  Ruth Mikelsaar; Mikk Pauklin; Jelena Lissitsina; Margus Punab
Journal:  Fertil Steril       Date:  2006-09       Impact factor: 7.329

7.  Thirty-two new cases with small supernumerary marker chromosomes detected in connection with fertility problems: detailed molecular cytogenetic characterization and review of the literature.

Authors:  Marina Manvelyan; Mariluce Riegel; Monica Santos; Carme Fuster; Franck Pellestor; Marie-Luise Mazaurik; Bernt Schulze; Anna Polityko; Hanne Tittelbach; Gisela Reising-Ackermann; Britta Belitz; Ute Hehr; Christina Kelbova; Marianne Volleth; Elisabeth Gödde; Jasen Anderson; Peter Küpferling; Sigrid Köhler; Hans-Christoph Duba; Andreas Dufke; Dilek Aktas; Thomas Martin; Isolde Schreyer; Elisabeth Ewers; Daniela Reich; Kristin Mrasek; Anja Weise; Thomas Liehr
Journal:  Int J Mol Med       Date:  2008-06       Impact factor: 4.101

Review 8.  Small supernumerary marker chromosomes (sSMC) in humans.

Authors:  T Liehr; U Claussen; H Starke
Journal:  Cytogenet Genome Res       Date:  2004       Impact factor: 1.636

9.  Familial small supernumerary marker chromosomes are predominantly inherited via the maternal line.

Authors:  Thomas Liehr
Journal:  Genet Med       Date:  2006-07       Impact factor: 8.822

10.  QuantiSNP: an Objective Bayes Hidden-Markov Model to detect and accurately map copy number variation using SNP genotyping data.

Authors:  Stefano Colella; Christopher Yau; Jennifer M Taylor; Ghazala Mirza; Helen Butler; Penny Clouston; Anne S Bassett; Anneke Seller; Christopher C Holmes; Jiannis Ragoussis
Journal:  Nucleic Acids Res       Date:  2007-03-06       Impact factor: 16.971
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  5 in total

1.  Balanced reciprocal translocation t(5;13)(q33;q12) and 9q31.1 microduplication in a man suffering from infertility and pollinosis.

Authors:  Ruth Mikelsaar; Mari Nelis; Ants Kurg; Olga Zilina; Paul Korrovits; Ranno Rätsep; Maie Väli
Journal:  J Appl Genet       Date:  2011-11-29       Impact factor: 3.240

2.  NR0B1 (DAX1) mutations in patients affected by congenital adrenal hypoplasia with growth hormone deficiency as a new finding.

Authors:  Aleksandra Rojek; Monika Obara-Moszynska; Elzbieta Malecka; Malgorzata Slomko-Jozwiak; Marek Niedziela
Journal:  J Appl Genet       Date:  2013-02-02       Impact factor: 3.240

3.  Hypogonadotropic hypogonadism associated with another small supernumerary marker chromosome (sSMC) derived from chromosome 22, a case report.

Authors:  Cui Li; Minggang Zhao; Xiang Wang; Xu Li; Junping Xing
Journal:  Transl Androl Urol       Date:  2021-04

4.  [Chromosome markers: case report].

Authors:  Imane Samri; Laila Bouguenouch; Hasna Hamdaoui; Ihsan El Otmani; Nissrine El Omairi; Sana Chaouki; Moustapha Hida; Karim Ouldim
Journal:  Pan Afr Med J       Date:  2013-07-18

5.  Molecular characterization of small supernumerary marker chromosomes derived from chromosome 14/22 detected in adult women with fertility problems: Three case reports and literature review.

Authors:  Meiling Sun; Han Zhang; Qi Xi; Leilei Li; Xiaonan Hu; Hongguo Zhang; Ruizhi Liu
Journal:  Medicine (Baltimore)       Date:  2020-10-02       Impact factor: 1.817
  5 in total

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