Literature DB >> 1674717

A 48,XXY,+21 Down syndrome patient with additional paternal X and maternal 21.

I Lorda-Sanchez1, M B Petersen, F Binkert, M Maechler, W Schmid, P A Adelsberger, S E Antonarakis, A Schinzel.   

Abstract

The origin of meiotic nondisjunction of the extra chromosomes X and 21 was studied in a patient with the karyotype 48,XXY,+21 using DNA polymorphisms. The extra chromosome X was the result of paternal first meiotic nondisjunction of X and Y. The extra chromosome 21 was derived from the mother. The meiotic error in the mother most probably occurred in meiosis II. Thus, this is a combination caused by the chance occurrence of two independent events.

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Year:  1991        PMID： 1674717     DOI： 10.1007/bf01213092

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  14 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

2.  Use of short sequence repeat DNA polymorphisms after PCR amplification to detect the parental origin of the additional chromosome 21 in Down syndrome.

Authors:  M B Petersen; A A Schinzel; F Binkert; L Tranebjaerg; M Mikkelsen; F A Collins; E P Economou; S E Antonarakis
Journal:  Am J Hum Genet       Date:  1991-01       Impact factor: 11.025

3.  Isolation and characterization of a human variable copy number tandem repeat at Xcen-p11.22.

Authors:  N J Fraser; Y Boyd; I Craig
Journal:  Genomics       Date:  1989-07       Impact factor: 5.736

4.  Coincident maternal meiotic nondisjunction of chromosomes X and 21 without evidence of autosomal asynapsis.

Authors:  R S Ikonen; M Lindlöf; M O Janas; K O Simola; A Millington-Ward; A de la Chapelle
Journal:  Hum Genet       Date:  1989-10       Impact factor: 4.132

5.  Improved DNA markers for efficient analysis of fragile X families.

Authors:  R Heilig; I Oberlé; B Arveiler; A Hanauer; M Vidaud; J L Mandel
Journal:  Am J Med Genet       Date:  1988 May-Jun

Review 6.  The genetic control of meiosis.

Authors:  B S Baker; A T Carpenter; M S Esposito; R E Esposito; L Sandler
Journal:  Annu Rev Genet       Date:  1976       Impact factor: 16.830

7.  [Double trisomy and transmitted pericentric inversion (48,XXY, +21,inv(22)). Interchromosomal effect].

Authors:  R Saura; M Longy; M Sautarael; M Renouil; B Sandler
Journal:  Ann Genet       Date:  1983

Review 8.  Trisomy in man.

Authors:  T J Hassold; P A Jacobs
Journal:  Annu Rev Genet       Date:  1984       Impact factor: 16.830

9.  Risk for chromosome abnormality at amniocentesis following a child with a non-inherited chromosome aberration. A European Collaborative Study on Prenatal Diagnoses 1981.

Authors:  J Stene; E Stene; M Mikkelsen
Journal:  Prenat Diagn       Date:  1984       Impact factor: 3.050

10.  Incidence study of Down's syndrome in Copenhagen, 1960-1971; with chromosome investigation.

Authors:  M Mikkelsen; G Fischer; J Stene; E Stene; E Petersen
Journal:  Ann Hum Genet       Date:  1976-11       Impact factor: 1.670
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  5 in total

1.  Double trisomy with 48, XXX+21 karyotype in a Down's syndrome child from Jammu and Kashmir, India.

Authors:  Wahied Khawar Balwan; Parvinder Kumar; T R Raina; Subash Gupta
Journal:  J Genet       Date:  2008-12       Impact factor: 1.166

2.  Familial small supernumerary marker chromosome (sSMC) (14)(:p11-q11:) [corrected] in a child with translocation Down syndrome.

Authors:  Babu Rao Vundinti; Seema Korgaonkar; Kanjaksha Ghosh
Journal:  Indian J Pediatr       Date:  2009-12-11       Impact factor: 1.967

3.  Cytogenetic status of patients with congenital malformations or suspected chromosomal abnormalities in Turkey: a comprehensive cytogenetic survey of 11,420 patients.

Authors:  Osman Demirhan; Erdal Tunç
Journal:  Chromosoma       Date:  2022-10-11       Impact factor: 2.919

4.  Reduced recombination and paternal age effect in Klinefelter syndrome.

Authors:  I Lorda-Sanchez; F Binkert; M Maechler; W P Robinson; A A Schinzel
Journal:  Hum Genet       Date:  1992-07       Impact factor: 4.132

5.  Rapid detection of fetal aneuploidies by quantitative fluorescent-polymerase chain reaction for prenatal diagnosis in the Turkish population.

Authors:  Ai Guzel; Mb Yilmaz; O Demirhan; A Pazarbasi; S Kocaturk-Sel; Ma Erkoc; N Inandiklioglu; Ft Ozgunen; C Sariturk
Journal:  Balkan J Med Genet       Date:  2012-06       Impact factor: 0.519
  5 in total

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