Literature DB >> 1195357

Long arm deletion of chromosome no. 6 in a mentally retarded boy with multiple physical malformations.

J Milosević, P Kalicanin.   

Abstract

In a severe mentally retarded boy with multiple physical malformations cytogenetic analysis by the method of heat Giemsa staining confirmed the long arm deletion of chromosome No. 6--46, XY, del(6) (q2). Cytogenetic finding in parents were normal.

Entities:  

Mesh：

Year:  1975        PMID： 1195357

Source DB:  PubMed          Journal:  J Ment Defic Res        ISSN： 0022-264X


  7 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

Review 3.  Molecular genetics of macular dystrophies.

Authors:  K Zhang; H Yeon; M Han; L A Donoso
Journal:  Br J Ophthalmol       Date:  1996-11       Impact factor: 4.638

4.  Necrotizing Enterocolitis in Two Siblings and an Unrelated Infant with Overlapping Chromosome 6q25 Deletions.

Authors:  Hannah C D Esdal; Muhammad B Ghbeis; Daniel A Saltzman; Donavon Hess; Janet R Hume; Robyn C Reed; Susan A Berry; Eric Hoggard; Betsy Hirsch; Linda B Baughn; Lisa A Schimmenti
Journal:  Mol Syndromol       Date:  2018-04-28

5.  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

Review 6.  A new case of de novo 6q24.2-q25.2 deletion on paternal chromosome 6 with growth hormone deficiency: a twelve-year follow-up and literature review.

Authors:  Stefano Stagi; Elisabetta Lapi; Marilena Pantaleo; Massimo Carella; Antonio Petracca; Agostina De Crescenzo; Leopoldo Zelante; Andrea Riccio; Maurizio de Martino
Journal:  BMC Med Genet       Date:  2015-08-23       Impact factor: 2.103

7.  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
  7 in total

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