Literature DB >> 29142768

A Rare Double Aneuploidy Case (Down-Klinefelter).

Sevcan Tug Bozdogan1, Atil Bisgin1.   

Abstract

Down's syndrome has its own dysmorphic findings and is accompanied by mental retardation and hypotonia. Klinefelter's syndrome is a syndrome caused by a numerical abnormality that affects male physical and cognitive development. This case reports a unique finding of 48,XXY, + 21 and a current literature review. A 4-month-old male patient presented with typical clinical features of Down's syndrome with hypothyroidism, atrial septal defect, ventricular septal defect, and patent ductus arteriosus without any phenotypic signs of Klinefelter's syndrome.

Entities:  

Keywords:  aneuploidy; chromosome; syndrome

Year:  2017        PMID: 29142768      PMCID: PMC5683955          DOI: 10.1055/s-0037-1604098

Source DB:  PubMed          Journal:  J Pediatr Genet        ISSN: 2146-460X


  13 in total

1.  The chromosomes in a patient showing both mongolism and the Klinefelter syndrome.

Authors:  C E FORD; K W JONES; O J MILLER; U MITTWOCH; L S PENROSE; M RIDLER; A SHAPIRO
Journal:  Lancet       Date:  1959-04-04       Impact factor: 79.321

Review 2.  Double trisomy (48,XXY,+21) in monozygotic twins: case report and review of the literature.

Authors:  Dimitrios Iliopoulos; George Poultsides; Vasiliki Peristeri; Georgia Kouri; Alexandros Andreou; Nikolaos Voyiatzis
Journal:  Ann Genet       Date:  2004 Jan-Mar

Review 3.  Epidemiology of double aneuploidies involving chromosome 21 and the sex chromosomes.

Authors:  Natalia V Kovaleva; David E Mutton
Journal:  Am J Med Genet A       Date:  2005-04-01       Impact factor: 2.802

4.  Cytogenetic abnormalities in 179 cases with male infertility in Western Region of Turkey: report and review.

Authors:  M Akgul; F Ozkinay; D Ercal; O Cogulu; O Dogan; B Altay; E Tavmergen; C Gunduz; C Ozkinay
Journal:  J Assist Reprod Genet       Date:  2009-01-30       Impact factor: 3.412

Review 5.  Prenatal diagnosis of double aneuploidy, 48,XXY,+21, and review of the literature.

Authors:  Cerine Jeanty; Cheryl Turner
Journal:  J Ultrasound Med       Date:  2009-05       Impact factor: 2.153

6.  Double trisomy in spontaneous abortions.

Authors:  K S Reddy
Journal:  Hum Genet       Date:  1997-12       Impact factor: 4.132

7.  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

8.  Double aortic arch with double aneuploidy--rare anomaly in combined Down and Klinefelter syndrome.

Authors:  Maaike F Gerretsen; Willem Peelen; Lukas A J Rammeloo; David R Koolbergen; Jaroslav Hruda
Journal:  Eur J Pediatr       Date:  2009-03-05       Impact factor: 3.183

Review 9.  Double aneuploidy in a Turkish child: Down-Klinefelter syndrome.

Authors:  Ali Karaman; Eşref Kabalar
Journal:  Congenit Anom (Kyoto)       Date:  2008-03       Impact factor: 1.409

10.  The origin of 47,XXY and 47,XXX aneuploidy: heterogeneous mechanisms and role of aberrant recombination.

Authors:  M MacDonald; T Hassold; J Harvey; L H Wang; N E Morton; P Jacobs
Journal:  Hum Mol Genet       Date:  1994-08       Impact factor: 6.150

View more
  2 in total

1.  Down-Klinefelter Syndrome (48,XXY,+21) in a Saudi Neonate: A Case Report and Literature Review.

Authors:  Jubara Alallah; Sohaib Habhab; Farzeen Mohtisham; Aiman Shawli; Mustafa Daghistani
Journal:  Cureus       Date:  2022-04-28

Review 2.  What should we consider in the case of combined Down- and 47,XY,+i(X)(q10) Klinefelter syndromes? The unique case of a male newborn and review of the literature.

Authors:  Eva Pinti; Anna Lengyel; Gyorgy Fekete; Iren Haltrich
Journal:  BMC Pediatr       Date:  2020-01-13       Impact factor: 2.125

  2 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.