Literature DB >> 24288033

Recurrence of Angelman syndrome in siblings: challenges in genetic counseling.

Dhanya Yesodharan1, M V Thampi, Teena Koshy, Sheela Nampoothiri.   

Abstract

The authors report a rare occurrence of two siblings with Angelman syndrome. Their karyotype revealed monosomy of chromosome 15 and a derivative chromosome 1 leading to Angelman syndrome. Their mother was a balanced translocation carrier involving chromosomes 1p and 15p. In her subsequent pregnancy, prenatal karyotype analysis was offered and the fetus was unaffected.

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Year:  2013        PMID： 24288033     DOI： 10.1007/s12098-013-1292-4

Source DB:  PubMed          Journal:  Indian J Pediatr        ISSN： 0019-5456            Impact factor:   1.967


  10 in total

1.  Prader-Willi syndrome and Angelman syndrome in cousins from a family with a translocation between chromosomes 6 and 15.

Authors:  D F Smeets; B C Hamel; M R Nelen; H J Smeets; J H Bollen; A P Smits; H H Ropers; B A van Oost
Journal:  N Engl J Med       Date:  1992-03-19       Impact factor: 91.245

Review 2.  Angelman syndrome (AS, MIM 105830).

Authors:  Griet Van Buggenhout; Jean-Pierre Fryns
Journal:  Eur J Hum Genet       Date:  2009-05-20       Impact factor: 4.246

3.  Genetic counseling in Angelman syndrome: gonadal mosaicism.

Authors:  H J Stalker; C A Williams; J Wagstaff
Journal:  Am J Med Genet       Date:  1998-08-06

4.  Familial cryptic translocation resulting in Angelman syndrome:implications for imprinting or location of the Angelman gene?

Authors:  L W Burke; J E Wiley; C C Glenn; D J Driscoll; K M Loud; A J Smith; T Kushnick
Journal:  Am J Hum Genet       Date:  1996-04       Impact factor: 11.025

Review 5.  Genetic counseling in Angelman syndrome: the challenges of multiple causes.

Authors:  H J Stalker; C A Williams
Journal:  Am J Med Genet       Date:  1998-04-28

6.  Angelman syndrome associated with an inversion of chromosome 15q11.2q24.3.

Authors:  V Greger; J H Knoll; J Wagstaff; E Woolf; P Lieske; H Glatt; P A Benn; S S Rosengren; M Lalande
Journal:  Am J Hum Genet       Date:  1997-03       Impact factor: 11.025

7.  Angelman syndrome and prenatally diagnosed Prader-Willi syndrome in first cousins.

Authors:  Prajnya Ranganath; Meenal Agarwal; Shubha R Phadke
Journal:  Am J Med Genet A       Date:  2011-09-30       Impact factor: 2.802

8.  UBE3A/E6-AP mutations cause Angelman syndrome.

Authors:  T Kishino; M Lalande; J Wagstaff
Journal:  Nat Genet       Date:  1997-01       Impact factor: 38.330

9.  Familial unbalanced translocation t(8;15)(p23.3;q11) with uniparental disomy in Angelman syndrome.

Authors:  A Smith; Z M Deng; R Beran; T Woodage; R J Trent
Journal:  Hum Genet       Date:  1994-04       Impact factor: 4.132

Review 10.  Angelman syndrome: a review of the clinical and genetic aspects.

Authors:  J Clayton-Smith; L Laan
Journal:  J Med Genet       Date:  2003-02       Impact factor: 6.318
  10 in total

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