Literature DB >> 624189

Developmental abnormalities associated with long arm deletion of chromosome No. 6.

L Bartoshesky, M B Lewis, H M Pashayan.   

Abstract

A patient is reported who had a partial terminal deletion of the long arm of chromosome No. 6. His clinical findings included development delay, failure to thrive, neurologic abnormalities, and multiple congenital malformations. Among the malformation were unusual facial features, cleft palate, atrial septal defect, and abnormalities of the external genitalia. The patient's features are compared with others who may have material deleted from the long arm of chromosome No. 6.

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Year:  1978        PMID: 624189     DOI: 10.1111/j.1399-0004.1978.tb04129.x

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


  5 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.  Three cases of ring chromosome 2, one derived from a paternal 2/6 translocation.

Authors:  P Maraschio; C Danesino; A Garau; V Saputo; V Vigi; S Volpato
Journal:  Hum Genet       Date:  1979-04-27       Impact factor: 4.132

4.  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

5.  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
  5 in total

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