Literature DB >> 3487275

De novo del(6)(q25) associated with macular degeneration.

F Rivas, C Ruiz, H Rivera, M Möller, J I Serrano-Lucas, J M Cantú.   

Abstract

An eight-month-old girl with a de novo del(6)(q25) is described. She and other previous cases of 6q deletion showed concordance for developmental retardation associated with multiple unspecific congenital abnormalities, which do not yet allow the delineation of a syndrome. However, bilateral macular degeneration was found in the proposita and had been observed in another similar case, so it probably represents a distinctive feature of 6q terminal monosomy. This observation also suggests the existence of a dominant macular degeneration locus within 6q25----qter.

Entities:  

Mesh：

Year:  1986        PMID： 3487275

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


  6 in total

1.  Interstitial deletion of 6q25.2-q25.3: a novel microdeletion syndrome associated with microcephaly, developmental delay, dysmorphic features and hearing loss.

Authors:  Sandesh Chakravarthy Sreenath Nagamani; Ayelet Erez; Christine Eng; Zhishuo Ou; Craig Chinault; Laura Workman; James Coldwell; Pawel Stankiewicz; Ankita Patel; James R Lupski; Sau Wai Cheung
Journal:  Eur J Hum Genet       Date:  2008-11-26       Impact factor: 4.246

2.  Analysis of a familial three way translocation involving chromosomes 3q, 6q, and 15q by high resolution banding and fluorescent in situ hybridisation (FISH) shows two different unbalanced karyotypes in sibs.

Authors:  D Wieczorek; H Engels; R Viersbach; B Henke; G Schwanitz; E Passarge
Journal:  J Med Genet       Date:  1998-07       Impact factor: 6.318

3.  Interstitial deletion of chromosome 6q: precise definition of the breakpoints by microdissection, DNA amplification, and reverse painting.

Authors:  N Rubtsov; G Senger; H Kuzcera; A Neumann; C Kelbova; K Junker; V Beensen; U Claussen
Journal:  Hum Genet       Date:  1996-06       Impact factor: 4.132

4.  The role of BAF (mSWI/SNF) complexes in mammalian neural development.

Authors:  Esther Y Son; Gerald R Crabtree
Journal:  Am J Med Genet C Semin Med Genet       Date:  2014-09-05       Impact factor: 3.908

5.  Developmental Coordination Disorder in a Patient with Mental Disability and a Mild Phenotype Carrying Terminal 6q26-qter Deletion.

Authors:  Marianna De Cinque; Orazio Palumbo; Ermelinda Mazzucco; Antonella Simone; Pietro Palumbo; Renata Ciavatta; Giuliana Maria; Rosangela Ferese; Stefano Gambardella; Antonella Angiolillo; Massimo Carella; Silvio Garofalo
Journal:  Front Genet       Date:  2017-12-06       Impact factor: 4.599

6.  6q25.1-q25.3 Microdeletion in a Chinese Girl

Authors:  Mian-Ling Zhong; Ye-Mei Song; Chao-Chun Zou
Journal:  J Clin Res Pediatr Endocrinol       Date:  2020-05-08
  6 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.