Literature DB >> 2852898

Insertional translocations: report of two new families and review of the literature.

D N Abuelo1, G Barsel-Bowers, A Richardson.   

Abstract

We describe two families with insertional translocations. In the first, a large family ascertained because of repeated pregnancy loss, the insertional translocation, ins(1;3)(q32;p13pter), was found to be segregating through three generations. In the second family, ascertained through a proposita with congenital malformations, multiple spontaneous abortions also occurred. The father had an insertional translocation, inv 4(p14,q21.1)ins(7,4)(q32;q21.1 q23). These cases illustrate that recurrent fetal wastage may be caused by insertional translocations and in fact may be the only clinical manifestation of this unusual type of chromosome rearrangement.

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Year:  1988        PMID: 2852898     DOI: 10.1002/ajmg.1320310209

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  8 in total

1.  Microdeletion at 4q21.3 is associated with intellectual disability, dysmorphic facies, hypotonia, and short stature.

Authors:  Lynn Dukes-Rimsky; Gregory F Guzauskas; Kenton R Holden; Rachel Griggs; Sydney Ladd; Maria del Carmen Montoya; Barbara R DuPont; Anand K Srivastava
Journal:  Am J Med Genet A       Date:  2011-08-10       Impact factor: 2.802

2.  A de novo insertion, detected prenatally, with normal phenotype.

Authors:  A F Hashish; N A Monk; A J Watt; R J Gardner
Journal:  J Med Genet       Date:  1992-05       Impact factor: 6.318

3.  A rare insertional translocation of proximal segment with heterochromatic region of 1q into 7p in monozygotic twins and spontaneous abortions.

Authors:  R S Muneer; L M Thompson; E Kamat
Journal:  Hum Genet       Date:  1991-11       Impact factor: 4.132

4.  Three cases of partial trisomy 7q owing to rare structural rearrangements of chromosome 7.

Authors:  D R Romain; H Cairney; D Stewart; L M Columbano-Green; M Garry; M I Parslow; R Parfitt; R H Smythe; C J Chapman
Journal:  J Med Genet       Date:  1990-02       Impact factor: 6.318

5.  Two sibs with unbalanced translocations in the Waardenburg gene region.

Authors:  L I al Gazali; R Quaife
Journal:  J Med Genet       Date:  1993-07       Impact factor: 6.318

6.  Recurrence, submicroscopic complexity, and potential clinical relevance of copy gains detected by array CGH that are shown to be unbalanced insertions by FISH.

Authors:  Nicholas J Neill; Blake C Ballif; Allen N Lamb; Sumit Parikh; J Britt Ravnan; Roger A Schultz; Beth S Torchia; Jill A Rosenfeld; Lisa G Shaffer
Journal:  Genome Res       Date:  2011-03-07       Impact factor: 9.043

7.  Cytogenetics of an intrachromosomal transposition in Neurospora.

Authors:  D D Perkins; B C Turner; E G Barry; V C Pollard
Journal:  Chromosoma       Date:  1995-12       Impact factor: 4.316

8.  Correlation between missed abortion and insertional translocation involving chromosomes 1 and 7.

Authors:  Neveen Ashaat; Ahmed Husseiny
Journal:  Iran J Reprod Med       Date:  2012-01
  8 in total

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