Literature DB >> 7710255

Terminal deletion of 6p: report of a new case.

A Plaja1, R Vidal, D Soriano, X Bou, T Vendrell, C Mediano, J M Pueyo, X Labraña, E Sarret.   

Abstract

The authors report the case of a girl with psychomotor and growth retardation, ventricular septal defect, patent ductus arteriosus, bulging forehead, prominent philtrum, low nasal bridge, inner epicanthal folds, strabismus, miosis, low set ears with prominence of antihelices, short neck, single transverse crease and camptodactyly of the fourth finger in both hands. G-banded chromosomal analysis revealed a 46, XX, del (6) (p23) chromosome constitution. A review of the phenotypes of the patients known with this chromosome deletion is presented.

Entities:  

Mesh：

Year:  1994        PMID： 7710255

Source DB:  PubMed          Journal:  Ann Genet        ISSN： 0003-3995


  6 in total

1.  Autosomal dominant iridogoniodysgenesis anomaly maps to 6p25.

Authors:  A J Mears; F Mirzayans; D B Gould; W G Pearce; M A Walter
Journal:  Am J Hum Genet       Date:  1996-12       Impact factor: 11.025

2.  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 3.  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

4.  Haploinsufficiency and triploinsensitivity of the same 6p25.1p24.3 region in a family.

Authors:  Zhongxia Qi; Linda Jo Bone Jeng; Anne Slavotinek; Jingwei Yu
Journal:  BMC Med Genomics       Date:  2015-07-15       Impact factor: 3.063

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

Review 6.  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
  6 in total

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