Document Detail


Two novel familial balanced translocations t(8;11)(p23;q21) and t(6;16)(q26;p12) implicated in recurrent spontaneous abortion.
MedLine Citation:
PMID:  22424046     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Reciprocal translocations represent one of the most common structural rearrangements observed in humans. Estimates of the population frequency range from 1/673 to 1/1000. We have described two novel balanced translocations in two unrelated families who experienced Recurrent spontaneous abortions (RSA) following their separate non-consanguineous marriages. Initial cytogenetic studies were performed on cultured blood cells. High resolution GTG-banding analysis using cytovision software performed on their chromosomes revealed a novel balanced translocation t(8;11)(p23;q21) in a brother (45 years) and his sister (27 years) in one family. The second novel balanced translocation t(6;16)(q26;p12) was observed in a consanguineous couple with 4 RSA. These two families have an increased risk of having children with unbalanced karyotypes or RSA, because of incorrect chromosomal segregation during meiosis.
Authors:
Fatemeh Keify; Narges Zhiyan; Farzaneh Mirzaei; Semiramis Tootian; Saeedeh Ghazaey; Mohammad R Abbaszadegan
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Archives of Iranian medicine     Volume:  15     ISSN:  1735-3947     ISO Abbreviation:  Arch Iran Med     Publication Date:  2012 Apr 
Date Detail:
Created Date:  2012-03-19     Completed Date:  2012-06-13     Revised Date:  2013-05-15    
Medline Journal Info:
Nlm Unique ID:  100889644     Medline TA:  Arch Iran Med     Country:  Iran    
Other Details:
Languages:  eng     Pagination:  249-52     Citation Subset:  IM    
Affiliation:
Pardis Clinical and Genetics Laboratory, Mashhad, Iran.
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MeSH Terms
Descriptor/Qualifier:
Abortion, Spontaneous / genetics*
Adult
Chromosome Banding
Chromosomes, Human, Pair 11
Chromosomes, Human, Pair 16
Chromosomes, Human, Pair 6
Chromosomes, Human, Pair 8
Female
Humans
Karyotype
Male
Middle Aged
Pedigree
Phenotype
Recurrence
Translocation, Genetic*

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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