Literature DB >> 738725

10p- syndrome associated with multiple chromosomal abnormalities.

F Prieto, L Badia, J A Moreno, P Barbero, F Asensi.   

Abstract

A karyotype with six de novo autosomal abnormalities in chromosomes 2,4,9,10,12, and 13 was identified in a 7-year-old boy with mental retardation and other minor malformations. The G- and C-banding techniques revealed an equilibrated translocation between autosomes 2 and 4 and between autosomes 9 and 13. One chromosome 10 has lost genetic material from its short arms, probably because of an interstitial deletion. An unidentified chromosomal fragment has become inserted in the long arms of an autosome 12. The G bands demonstrate that genetic material inserted in the autosome 12 is not the genetic material deleted from the autosome 10. The propositus presents clinical features similar to the reported cases with 10p- syndrome. Nevertheless it is not possible to establish the influence of the genetic material inserted in autosome 12 on the propositus' phenotype.

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Year:  1978        PMID: 738725     DOI: 10.1007/bf00286969

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


  13 in total

1.  [Partial deletion of the short arm of the chromosome 9].

Authors:  F Serville; D Allain; A Broustet; C Martin; M Gachet; J P Babin; J Cenraud
Journal:  Ann Genet       Date:  1976-06

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3.  The 9p- deletion syndrome. Report of a patient with a 46, XX, 9P- constitution due to a paternal t(9p-;15+) translocation.

Authors:  E Orye; H Verhaaren; A M Van den Bogaert-Van Heesvelde
Journal:  Clin Genet       Date:  1975-11       Impact factor: 4.438

4.  Del (10)p autosomal deletion syndrome: clinical, cytogenetic and gene marker studies.

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Journal:  Humangenetik       Date:  1975

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Authors:  R Berger; J C Larroche; P L Toubas
Journal:  Acta Paediatr Scand       Date:  1977-09

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Journal:  Ann Genet       Date:  1973-03

7.  A simple technique for demonstrating centromeric heterochromatin.

Authors:  A T Sumner
Journal:  Exp Cell Res       Date:  1972-11       Impact factor: 3.905

8.  A rapid banding technique for human chromosomes.

Authors:  M Seabright
Journal:  Lancet       Date:  1971-10-30       Impact factor: 79.321

9.  A case of?6p- chromosomal aberration.

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Journal:  Am J Dis Child       Date:  1968-01

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Authors:  I Hansmann; J Keutel
Journal:  Humangenetik       Date:  1975-12-23
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  8 in total

1.  De novo Xp terminal deletion in a triple X female with recurrent spontaneous abortions: a case report.

Authors:  Tahir M Malla; Arshad A Pandith; Fayaz A Dar; Mahrukh H Zargar; Zafar A Shah
Journal:  J Genet       Date:  2014-12       Impact factor: 1.166

2.  Genomic Investigation of Balanced Chromosomal Rearrangements in Patients with Abnormal Phenotypes.

Authors:  Milena Simioni; François Artiguenave; Vincent Meyer; Ilária C Sgardioli; Nilma L Viguetti-Campos; Isabella Lopes Monlleó; Andréa T Maciel-Guerra; Carlos E Steiner; Vera L Gil-da-Silva-Lopes
Journal:  Mol Syndromol       Date:  2017-06-01

3.  De novo translocation heterozygote with three reciprocal translocations.

Authors:  J L Watt; D A Couzin
Journal:  J Med Genet       Date:  1983-10       Impact factor: 6.318

4.  Partial monosomy 10p syndrome.

Authors:  J M Klep-de Pater; J B Bijlsma; F M Alkema
Journal:  Eur J Pediatr       Date:  1981-10       Impact factor: 3.183

5.  A 5;7, 5;12 double reciprocal translocation in a normal mother and a 5;7 translocation with a recombinant chromosome 5 in her normal child.

Authors:  A Tabor; L K Jensen; C Lundsteen; E Niebuhr
Journal:  J Med Genet       Date:  1981-08       Impact factor: 6.318

6.  Two chromosomal syndromes in the same family: monosomy and trisomy for part of the short arm of chromosome 10.

Authors:  S Slinde; I L Hansteen
Journal:  Eur J Pediatr       Date:  1982-10       Impact factor: 3.183

7.  Partial monosomy of chromosome 10 short arms.

Authors:  A Gencík; U Brönniman; R Tobler; P Auf der Maur
Journal:  J Med Genet       Date:  1983-04       Impact factor: 6.318

8.  A foetus with 18p11.32-q21.2 duplication and Xp22.33-p11.1 deletion derived from a maternal reciprocal translocation t(X;18)(q13;q21.3).

Authors:  Jun-Kun Chen; Ping Liu; Li-Qin Hu; Qing Xie; Quan-Fei Huang; Hai-Liang Liu
Journal:  Mol Cytogenet       Date:  2018-06-13       Impact factor: 2.009

  8 in total

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