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Literature DB >> 1204234

Ring chromosome 6 in a malformed boy.

F Salamanca-Gonez, S Nava, S Armendares.

Abstract

In a mentally retarded and malformed boy who died at 6 months of age a ring chromosome 6 was identified by G banding. Clinical, cytogenetical and post-mortem findings are discussed.

Entities: Disease Species

Mesh：

Year: 1975 PMID： 1204234 DOI： 10.1111/j.1399-0004.1975.tb01516.x

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

Keyword Cloud
Cited

7 in total

1. Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36.3, 2p16.1-p23.1, 4q21.21-q22.1, 6q26-q27, and 21q2.

Authors: William B Dobyns; Ghayda Mirzaa; Susan L Christian; Kristin Petras; Jessica Roseberry; Gary D Clark; Cynthia J R Curry; Donna McDonald-McGinn; Livija Medne; Elaine Zackai; Julie Parsons; Dina J Zand; Fuki M Hisama; Christopher A Walsh; Richard J Leventer; Christa L Martin; Marzena Gajecka; Lisa G Shaffer
Journal: Am J Med Genet A Date: 2008-07-01 Impact factor: 2.802

2. Ring 11 chromosome (46,xx,r11(p15q25)).

Authors: M Valente; H Muller; R S Sparkes
Journal: Hum Genet Date: 1977-05-10 Impact factor: 4.132

3. Ring 10 chromosome: 46,XX,r10(p15q26).

Authors: R S Sparkes; S M Ling; H Muller
Journal: Hum Genet Date: 1978-09-19 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

Ring chromosome 6 in a malformed boy.

1. Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36.3, 2p16.1-p23.1, 4q21.21-q22.1, 6q26-q27, and 21q2.

2. Ring 11 chromosome (46,xx,r11(p15q25)).

3. Ring 10 chromosome: 46,XX,r10(p15q26).

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

5. Ring chromosome 6: case report and review of literature.

6. Mosaic ring chromosome 6 in an infant with significant patent ductus arteriosus and multiple congenital anomalies.

7. Molecular characterization of a novel ring 6 chromosome using next generation sequencing.