Literature DB >> 15750019

Three cases with enlarged acrocentric p-arms and two cases with cryptic partial trisomies.

Heike Starke1, Kristin Mrasek, Thomas Liehr.   

Abstract

In three cases, banding analysis revealed a normal karyotype except for an enlarged short arm of one chromosome 13 or 15. To clarify whether this enlargement was due to a heteromorphism or to a cryptic chromosomal trisomy, so-called cenM-FISH probe sets containing a microdissection-derived probe specific for the acrocentric human p-arms were applied. The results enabled us to confirm in one case and to exclude in two cases that the enlargement on the suspect chromosome was due to a p-arm polymorphism. M-FISH and/or microdissection were used to resolve the nature of the rearrangements, i.e., partial trisomies 6 and 19.

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Year:  2005        PMID: 15750019     DOI: 10.1369/jhc.4B6407.2005

Source DB:  PubMed          Journal:  J Histochem Cytochem        ISSN: 0022-1554            Impact factor:   2.479


  2 in total

1.  Characterization of a rare short arm heteromorphism of chromosome 22 in a girl with down-syndrome like facies.

Authors:  Abdelhafid Natiq; Siham Chafai Elalaoui; Thomas Liehr; Saïd Amzazi; Abdelaziz Sefiani
Journal:  Indian J Hum Genet       Date:  2014-01

2.  19q13.33→qter trisomy in a girl with intellectual impairment and seizures.

Authors:  Gianna Carvalheira; Mariana Moysés Oliveira; Sylvia Takeno; Fernanda Teresa de Lima; Vera Ayres Meloni; Maria Isabel Melaragno
Journal:  Meta Gene       Date:  2014-10-27
  2 in total

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