Literature DB >> 3359674

A patient with an interstitial deletion of the short arm of chromosome 6.

E van Swaay1, G C Beverstock, J J van de Kamp.   

Abstract

The clinical history and subsequent progress of a child with an interstitial deletion in the short arm of chromosome 6 is described. This abnormality coupled with a reduced Hageman factor (Factor XII) led to an earlier publication which suggested that this gene was localized to the breakpoint region involved. A review of similar phenotypes from the literature is presented.

Entities:  

Mesh：

Year:  1988        PMID： 3359674     DOI： 10.1111/j.1399-0004.1988.tb03418.x

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


  7 in total

1.  Deletions in chromosome 6p22.3-p24.3, including ATXN1, are associated with developmental delay and autism spectrum disorders.

Authors:  Patrícia Bs Celestino-Soper; Cindy Skinner; Richard Schroer; Patricia Eng; Jayant Shenai; Malgorzata Mj Nowaczyk; Deborah Terespolsky; Donna Cushing; Gayle S Patel; Ladonna Immken; Alecia Willis; Joanna Wiszniewska; Reuben Matalon; Jill A Rosenfeld; Roger E Stevenson; Sung-Hae L Kang; Sau Wai Cheung; Arthur L Beaudet; Pawel Stankiewicz
Journal:  Mol Cytogenet       Date:  2012-04-05       Impact factor: 2.009

Review 2.  Distal 6p deletion syndrome: a report of a case with anterior chamber eye anomaly and review of published reports.

Authors:  C J Law; A M Fisher; I K Temple
Journal:  J Med Genet       Date:  1998-08       Impact factor: 6.318

3.  Haploinsufficiency of two histone modifier genes on 6p22.3, ATXN1 and JARID2, is associated with intellectual disability.

Authors:  Tuva Barøy; Doriana Misceo; Petter Strømme; Asbjørg Stray-Pedersen; Asbjørn Holmgren; Olaug Kristin Rødningen; Anne Blomhoff; Johan Robert Helle; Alice Stormyr; Bjørn Tvedt; Madeleine Fannemel; Eirik Frengen
Journal:  Orphanet J Rare Dis       Date:  2013-01-07       Impact factor: 4.123

4.  6p22.3 deletion: report of a patient with autism, severe intellectual disability and electroencephalographic anomalies.

Authors:  Daniela Di Benedetto; Giuseppa Di Vita; Corrado Romano; Mariangela Lo Giudice; Girolamo Aurelio Vitello; Marinella Zingale; Lucia Grillo; Lucia Castiglia; Sebastiano Antonino Musumeci; Marco Fichera
Journal:  Mol Cytogenet       Date:  2013-01-17       Impact factor: 2.009

5.  Partial deletion of chromosome 6p causing developmental delay and mild dysmorphisms in a child: molecular and developmental investigation and literature search.

Authors:  Nikolaos Vrachnis; Ioannis Papoulidis; Dionysios Vrachnis; Elisavet Siomou; Nikolaos Antonakopoulos; Stavroula Oikonomou; Dimitrios Zygouris; Nikolaos Loukas; Zoi Iliodromiti; Efterpi Pavlidou; Loretta Thomaidis; Emmanouil Manolakos
Journal:  Mol Cytogenet       Date:  2021-07-24       Impact factor: 2.009

6.  JARID2 haploinsufficiency is associated with a clinically distinct neurodevelopmental syndrome.

Authors:  Eline A Verberne; Shuxiang Goh; Jade England; Mieke M van Haelst; Philippe M Campeau; Manon van Ginkel; Louise Rafael-Croes; Saskia Maas; Abeltje Polstra; Yuri A Zarate; Katherine A Bosanko; Kieran B Pechter; Emma Bedoukian; Kosuke Izumi; Ayeshah Chaudhry; Nathaniel H Robin; Megan Boothe; Natalie C Lippa; Vimla Aggarwal; Darryl C De Vivo; Anna Lehman; Causes Study; Sylvia Stockler; Ange-Line Bruel; Bertrand Isidor; Jennifer Lemons; David F Rodriguez-Buritica; Christopher M Richmond; Zornitza Stark; Pankaj B Agrawal; R Frank Kooy; Marije E C Meuwissen; David A Koolen; Rolf Pfundt; Agne Lieden; Britt-Marie Anderlid; Dagmar Glatz; Marcel M A M Mannens; Madhura Bakshi; Frédérick A Mallette
Journal:  Genet Med       Date:  2020-10-20       Impact factor: 8.822

Review 7.  Phenotypic and molecular assessment of seven patients with 6p25 deletion syndrome: relevance to ocular dysgenesis and hearing impairment.

Authors:  Douglas B Gould; Mohamad S Jaafar; Mark K Addison; Francis Munier; Robert Ritch; Ian M MacDonald; Michael A Walter
Journal:  BMC Med Genet       Date:  2004-06-25       Impact factor: 2.103
  7 in total

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