Literature DB >> 29690655

A case of mosaic Klinefelter syndrome associated with isodicentric Yp.

Hiroshi Tomomasa1, Kazue Ogawa1, Joji Nagasawa1, Satoshi Satoh1, Hiroshi Muramatsu1, Tetsuro Iiyama2, Hiroshi Okada3.   

Abstract

We describe a case of mosaic Klinefelter syndrome demonstrating an isodicentric Y chromosome. A 70-year-old man visited our outpatient clinic complaining of dysuria resulting from atrophy of the penis. His height was 170 cm and his weight was 60 kg. A serum hormonal analysis revealed hypergonadotropic hypogonadism. A chromosomal analysis with fluorescence in situ hybridization revealed four cell lines in which the karyotypes were 47,XXY, 46,XY, 46,XX and 47,XX,idic(Y) (q11.2). To the best of our knowledge this is the first case of mosaic Klinefelter syndrome bearing an isodicentric Y chromosome. The origin of the isodicentric Y is discussed. (Reprod Med Biol 2008; 7: 177-180).

Entities:  

Keywords:  47,XX,idic(Y); fluorescence in situ hybridization; hypergonadotropichypogonadism; isodicentric Yp; mosaic Klinefelter syndrome

Year:  2008        PMID： 29690655      PMCID： PMC5904573          DOI： 10.1111/j.1447-0578.2008.00216.x

Source DB:  PubMed          Journal:  Reprod Med Biol        ISSN： 1445-5781


  8 in total

1.  Molecular and cytogenetic characterization of a non-mosaic isodicentric Y chromosome in a patient with Klinefelter syndrome.

Authors:  Wolfram Heinritz; Dieter Kotzot; Stefan Heinze; Annegret Kujat; Werner J Kleemann; Ursula G Froster
Journal:  Am J Med Genet A       Date:  2005-01-15       Impact factor: 2.802

2.  Patient with a non-mosaic isodicentric Yp and mild developmental delay.

Authors:  Katherine R Neas; Moh-Ying Yip; Con James; Edwin P E Kirk
Journal:  Am J Med Genet A       Date:  2005-08-30       Impact factor: 2.802

3.  Phenotypic variability in isodicentric Y patients: study of nine cases.

Authors:  M DesGroseilliers; M Beaulieu Bergeron; P Brochu; E Lemyre; N Lemieux
Journal:  Clin Genet       Date:  2006-08       Impact factor: 4.438

4.  Association between the degree of mosaicism and the severity of syndrome in Turner mosaics and Klinefelter mosaics.

Authors:  R Sarkar; K M Marimuthu
Journal:  Clin Genet       Date:  1983-12       Impact factor: 4.438

5.  A variant Klinefelter syndrome patient with an XXY/XX/XY karyotype studied by GTG-banding and fluorescence in situ hybridization.

Authors:  H F Mark; H Bai; E Sotomayor; S Mark; K Zolnierz; E Airall; M Sigman
Journal:  Exp Mol Pathol       Date:  1999-09       Impact factor: 3.362

6.  Cytogenetic and molecular characterization of two isodicentric Y chromosomes.

Authors:  P Stankiewicz; Z Hélias-Rodzewicz; K Jakubów-Durska; E Bocian; E Obersztyn; G A Rappold; T Mazurczak
Journal:  Am J Med Genet       Date:  2001-06-01

7.  Delineation of an isodicentric Y chromosome in a mosaic 45,X/46,X,idic(Y)(qter-p11.3::p11.3-qter) fetus by SRY sequencing, G-banding, FISH, SKY and study of distribution in different tissues.

Authors:  Hsuan-Hsuan Wu; Tsung-Hsien Lee; Chin-Der Chen; Kun-Tu Yeh; Ming Chen
Journal:  J Formos Med Assoc       Date:  2007-05       Impact factor: 3.282

Review 8.  Isodicentric Yp: prenatal diagnosis and outcome in 12 cases.

Authors:  H Bruyère; M D Speevak; E J T Winsor; B de Fréminville; S A Farrell; J McGowan-Jordan; B McGillivray; D Chitayat; D McFadden; V Adouard; D Terespolsky; F Prieur; T Pantzar; M Hrynchak
Journal:  Prenat Diagn       Date:  2006-04       Impact factor: 3.050
  8 in total
  1 in total

1.  Clinical, cytogenetic, and molecular findings of isodicentric Y chromosomes.

Authors:  Yang Yang; Wang Hao
Journal:  Mol Cytogenet       Date:  2019-12-27       Impact factor: 2.009
  1 in total

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