Literature DB >> 3720005

Congenital heart disease in supernumerary der(22),t(11;22) syndrome.

A E Lin, J Bernar, A J Chin, R S Sparkes, B S Emanuel, E H Zackai.   

Abstract

Congenital heart disease occurred in 62% of the reported cases of supernumerary der(22) syndrome. These were most commonly acyanotic lesions such as atrial septal defect, ventricular septal defect or patent ductus arteriosus. Heart disease did not, however, appear to be a major determinant of survival.

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Year:  1986        PMID： 3720005     DOI： 10.1111/j.1399-0004.1986.tb01254.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


  11 in total

1.  Clustered 11q23 and 22q11 breakpoints and 3:1 meiotic malsegregation in multiple unrelated t(11;22) families.

Authors:  T H Shaikh; M L Budarf; L Celle; E H Zackai; B S Emanuel
Journal:  Am J Hum Genet       Date:  1999-12       Impact factor: 11.025

2.  AT-rich palindromes mediate the constitutional t(11;22) translocation.

Authors:  L Edelmann; E Spiteri; K Koren; V Pulijaal; M G Bialer; A Shanske; R Goldberg; B E Morrow
Journal:  Am J Hum Genet       Date:  2000-11-28       Impact factor: 11.025

3.  A unique case of der(11)t(11;22),-22 arising from 3:1 segregation of a maternal t(11;22) in a family with co-segregation of the translocation and breast cancer.

Authors:  Vaidehi Jobanputra; Wendy K Chung; April M Hacker; Beverly S Emanuel; Dorothy Warburton
Journal:  Prenat Diagn       Date:  2005-08       Impact factor: 3.050

4.  A common breakpoint on 11q23 in carriers of the constitutional t(11;22) translocation.

Authors:  L Edelmann; E Spiteri; N McCain; R Goldberg; R K Pandita; S Duong; J Fox; D Blumenthal; S R Lalani; L G Shaffer; B E Morrow
Journal:  Am J Hum Genet       Date:  1999-12       Impact factor: 11.025

Review 5.  Phenotypic characterization of derivative 22 syndrome: case series and review.

Authors:  Deepti Saxena; Priyanka Srivastava; Moni Tuteja; Kausik Mandal; Shubha R Phadke
Journal:  J Genet       Date:  2018-03       Impact factor: 1.166

6.  Der(22) syndrome and velo-cardio-facial syndrome/DiGeorge syndrome share a 1.5-Mb region of overlap on chromosome 22q11.

Authors:  B Funke; L Edelmann; N McCain; R K Pandita; J Ferreira; S Merscher; M Zohouri; L Cannizzaro; A Shanske; B E Morrow
Journal:  Am J Hum Genet       Date:  1999-03       Impact factor: 11.025

Review 7.  Overview of epidemiology, genetics, birth defects, and chromosome abnormalities associated with CDH.

Authors:  Barbara R Pober
Journal:  Am J Med Genet C Semin Med Genet       Date:  2007-05-15       Impact factor: 3.908

Review 8.  Genomic disorders on 22q11.

Authors:  Heather E McDermid; Bernice E Morrow
Journal:  Am J Hum Genet       Date:  2002-03-29       Impact factor: 11.025

9.  Phenotypic delineation of Emanuel syndrome (supernumerary derivative 22 syndrome): Clinical features of 63 individuals.

Authors:  Melissa T Carter; Stephanie A St Pierre; Elaine H Zackai; Beverly S Emanuel; Kym M Boycott
Journal:  Am J Med Genet A       Date:  2009-08       Impact factor: 2.802

Review 10.  Genetic aspects of human congenital diaphragmatic hernia.

Authors:  B R Pober
Journal:  Clin Genet       Date:  2008-05-28       Impact factor: 4.438
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