Literature DB >> 933124

Partial trisomy 9 with resemblance to Coffin-Siris syndrome.

T Kushnick, G M Adessa.   

Abstract

An infant with partial trisomy of chromosome 9 who phenotypically resembled a case of Coffin-Siris syndrome is presented.

Entities:  

Mesh:

Year:  1976        PMID: 933124      PMCID: PMC1013400          DOI: 10.1136/jmg.13.3.237

Source DB:  PubMed          Journal:  J Med Genet        ISSN: 0022-2593            Impact factor:   6.318


  5 in total

1.  Trisomy 9 mosaicism with multiple congenital anomalies.

Authors:  R H Haslam; S P Broske; C M Moore; G H Thomas; C A Neill
Journal:  J Med Genet       Date:  1973-06       Impact factor: 6.318

2.  A case of trisomy 9.

Authors:  M Feingold; L Atkins
Journal:  J Med Genet       Date:  1973-06       Impact factor: 6.318

3.  Coffin-Siris syndrome. Two new cases.

Authors:  W H Weiswasser; B D Hall; G W Delavan; D W Smith
Journal:  Am J Dis Child       Date:  1973-06

4.  [4 cases of trisomy for the short arm of chromosome 9. Individualization of a new morbid entity].

Authors:  M O Rethoré; L Larget-Piet; D Abonyi; M Boeswillwald; R Berger; S Carpentier; J Cruveiller; B Dutrillau; J Lafourcade; M Penneau; J Lejeune
Journal:  Ann Genet       Date:  1970-12

5.  Presumed trisomy for the short arm of chromosome No. 9 not due to inherited translocation.

Authors:  H Hoehn; W Engel; H Reinwein
Journal:  Humangenetik       Date:  1971
  5 in total
  4 in total

1.  The Coffin-Siris syndrome: a proposed diagnostic approach and assessment of 15 overlapping cases.

Authors:  Samantha A Schrier; Joann N Bodurtha; Barbara Burton; Albert E Chudley; Mary Anne D Chiong; Maria Gabriella D'avanzo; Sally Ann Lynch; Antonio Musio; Dmitriy M Nyazov; Pedro A Sanchez-Lara; Stavit A Shalev; Matthew A Deardorff
Journal:  Am J Med Genet A       Date:  2012-06-18       Impact factor: 2.802

2.  Familial trisomy 9p and spinal muscular atrophy: clinical, cytogenetic and embryological findings.

Authors:  M Tolksdorf; J Kunze; G Gross-Selbeck; K Sperling; R D Wegner; V Wieczorek; M Vogel
Journal:  Eur J Pediatr       Date:  1977-08-23       Impact factor: 3.183

3.  Coffin-Siris syndrome with Mayer-Rokitansky-Küster-Hauser syndrome: a case report.

Authors:  Deepak Goyal; Dinesh K Yadav; Umesh Shukla; Sidharth K Sethi
Journal:  J Med Case Rep       Date:  2010-11-08

4.  De novo complex intra chromosomal rearrangement after ICSI: characterisation by BACs micro array-CGH.

Authors:  Serdar Kasakyan; Laurence Lohmann; Azeddine Aboura; Mazin Quimsiyeh; Yves Menezo; Gerard Tachdjian; Moncef Benkhalifa
Journal:  Mol Cytogenet       Date:  2008-12-23       Impact factor: 2.009

  4 in total

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