Literature DB >> 8882786

Chromosome 22q11.2 deletion in a boy with Opitz (G/BBB) syndrome.

J S Fryburg1, K Y Lin, W L Golden.   

Abstract

This report is on a 14-month-old boy with manifestations of Opitz (G/BBB) syndrome in whom a 22q11.2 deletion was found. Deletion analysis was requested because of some findings in this patient reminiscent of velocardiofacial (VCF) syndrome. The extent of aspiration and of respiratory symptoms in this child is not usually seen in VCF syndrome. Opitz syndrome maps to at least two loci, one on Xp, the other on 22q11.2.

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Mesh：

Year:  1996        PMID： 8882786     DOI： 10.1002/(SICI)1096-8628(19960329)62:3<274::AID-AJMG13>3.0.CO;2-H

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


  9 in total

Review 1.  Developmental trajectories in 22q11.2 deletion.

Authors:  Ann Swillen; Donna McDonald-McGinn
Journal:  Am J Med Genet C Semin Med Genet       Date:  2015-05-18       Impact factor: 3.908

2.  Mutations in SPECC1L, encoding sperm antigen with calponin homology and coiled-coil domains 1-like, are found in some cases of autosomal dominant Opitz G/BBB syndrome.

Authors:  Paul Kruszka; Dong Li; Margaret H Harr; Nathan R Wilson; Daniel Swarr; Elizabeth M McCormick; Rosetta M Chiavacci; Mindy Li; Ariel F Martinez; Rachel A Hart; Donna M McDonald-McGinn; Matthew A Deardorff; Marni J Falk; Judith E Allanson; Cindy Hudson; John P Johnson; Irfan Saadi; Hakon Hakonarson; Maximilian Muenke; Elaine H Zackai
Journal:  J Med Genet       Date:  2014-11-20       Impact factor: 6.318

3.  The 22q11.2 deletion in African-American patients: an underdiagnosed population?

Authors:  Donna M McDonald-McGinn; Nancy Minugh-Purvis; Richard E Kirschner; Abbas Jawad; Melissa K Tonnesen; Jason R Catanzaro; Elizabeth Goldmuntz; Deborah Driscoll; Don Larossa; Beverly S Emanuel; Elaine H Zackai
Journal:  Am J Med Genet A       Date:  2005-04-30       Impact factor: 2.802

Review 4.  Adults with genetic syndromes and cardiovascular abnormalities: clinical history and management.

Authors:  Angela E Lin; Craig T Basson; Elizabeth Goldmuntz; Pilar L Magoulas; Deborah A McDermott; Donna M McDonald-McGinn; Elspeth McPherson; Colleen A Morris; Jacqueline Noonan; Catherine Nowak; Mary Ella Pierpont; Reed E Pyeritz; Alan F Rope; Elaine Zackai; Barbara R Pober
Journal:  Genet Med       Date:  2008-07       Impact factor: 8.822

Review 5.  Velo-cardio-facial syndrome: 30 Years of study.

Authors:  Robert J Shprintzen
Journal:  Dev Disabil Res Rev       Date:  2008

6.  What is new with 22q? An update from the 22q and You Center at the Children's Hospital of Philadelphia.

Authors:  Ian M Campbell; Sarah E Sheppard; T Blaine Crowley; Daniel E McGinn; Alice Bailey; Michael J McGinn; Marta Unolt; Jelle F Homans; Erin Y Chen; Harold I Salmons; J William Gaynor; Elizabeth Goldmuntz; Oksana A Jackson; Lorraine E Katz; Maria R Mascarenhas; Vincent F X Deeney; René M Castelein; Karen B Zur; Lisa Elden; Staci Kallish; Thomas F Kolon; Sarah E Hopkins; Madeline A Chadehumbe; Michele P Lambert; Brian J Forbes; Julie S Moldenhauer; Erica M Schindewolf; Cynthia B Solot; Edward M Moss; Raquel E Gur; Kathleen E Sullivan; Beverly S Emanuel; Elaine H Zackai; Donna M McDonald-McGinn
Journal:  Am J Med Genet A       Date:  2018-10       Impact factor: 2.802

7.  Hemizygous mutations in SNAP29 unmask autosomal recessive conditions and contribute to atypical findings in patients with 22q11.2DS.

Authors:  Donna M McDonald-McGinn; Somayyeh Fahiminiya; Timothée Revil; Beata A Nowakowska; Joshua Suhl; Alice Bailey; Elisabeth Mlynarski; David R Lynch; Albert C Yan; Larissa T Bilaniuk; Kathleen E Sullivan; Stephen T Warren; Beverly S Emanuel; Joris R Vermeesch; Elaine H Zackai; Loydie A Jerome-Majewska
Journal:  J Med Genet       Date:  2012-12-11       Impact factor: 6.318

8.  Phenotypic spectrum associated with SPECC1L pathogenic variants: new families and critical review of the nosology of Teebi, Opitz GBBB, and Baraitser-Winter syndromes.

Authors:  Elizabeth J Bhoj; Damien Haye; Annick Toutain; Dominique Bonneau; Irene Kibæk Nielsen; Ida Bay Lund; Pauline Bogaard; Stine Leenskjold; Kadri Karaer; Katherine T Wild; Katheryn L Grand; Mirena C Astiazaran; Luis A Gonzalez-Nieto; Ana Carvalho; Daphné Lehalle; Shivarajan M Amudhavalli; Elena Repnikova; Carol Saunders; Isabelle Thiffault; Irfan Saadi; Dong Li; Hakon Hakonarson; Yoann Vial; Elaine Zackai; Patrick Callier; Séverine Drunat; Alain Verloes
Journal:  Eur J Med Genet       Date:  2018-11-22       Impact factor: 2.465

9.  MID1 and MID2 homo- and heterodimerise to tether the rapamycin-sensitive PP2A regulatory subunit, alpha 4, to microtubules: implications for the clinical variability of X-linked Opitz GBBB syndrome and other developmental disorders.

Authors:  Kieran M Short; Blair Hopwood; Zou Yi; Timothy C Cox
Journal:  BMC Cell Biol       Date:  2002-01-04       Impact factor: 4.241
  9 in total

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