Literature DB >> 2260591

Terminal deletion 6p23: a case report.

M H Kormann-Bortolotto1, L M Farah, D Soares, M Corbani, R Müller, A C Adell.   

Abstract

We report on a girl with cleft lip and cleft palate, antimongoloid slant of the palpebral fissures, umbilical hernia, skeletal anomalies, partial syndactyly, hypertonia with increased deep tendon reflexes, psychomotor and growth retardation, and other congenital anomalies. Cytogenetic studies demonstrated a 46,XX,del(6)(qter----p23:) chromosome constitution.

Entities:  

Mesh：

Year:  1990        PMID： 2260591     DOI： 10.1002/ajmg.1320370410

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


  6 in total

1.  Cleft lip--is there light at the end of the tunnel?

Authors:  S E Holder
Journal:  Arch Dis Child       Date:  1991-07       Impact factor: 3.791

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.  Exclusion of candidate genes from a role in cleft lip with or without cleft palate: linkage and association studies.

Authors:  G M Vintiner; K K Lo; S E Holder; R M Winter; S Malcolm
Journal:  J Med Genet       Date:  1993-09       Impact factor: 6.318

Review 5.  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

Review 6.  Assessment of candidate genes and genetic heterogeneity in human non syndromic orofacial clefts specifically non syndromic cleft lip with or without palate.

Authors:  Komal Saleem; Tahir Zaib; Wenjing Sun; Songbin Fu
Journal:  Heliyon       Date:  2019-12-13
  6 in total

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