Literature DB >> 1139788

Mental retardation and congenital malformations associated with a ring chromosome 6.

K Fried, M Rosenblatt, G Mundel, R Krikler.   

Abstract

A boy, in whom a ring chromosome 6 was found, presented with mental retardation and odd facies. He had a small head, bilateral epicanthus, broad nasal bridge, low set prominent ears, short neck and clasped thumbs. The ring chromosome was identified by the ASG banding technique.

Entities:  

Mesh：

Year:  1975        PMID： 1139788     DOI： 10.1111/j.1399-0004.1975.tb00318.x

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


  11 in total

1.  Mental retardation and congenital malformations associated with a ring chromosome 9.

Authors:  S Nakajima; M Yanagisawa; S Kamoshita; Y Nakagome
Journal:  Hum Genet       Date:  1976-06-29       Impact factor: 4.132

2.  Ring chromosome 10 associated with multiple congenital malformations.

Authors:  G Simoni; F Rossella; L Dalprà; G Visconti; C Piria-Schwarz
Journal:  Hum Genet       Date:  1979-10-01       Impact factor: 4.132

3.  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

4.  Physical retardation is associated with ring chromosome mosaicism: 46, XX,r(10)/45, XX,10 minus.

Authors:  S Lansky; W Daniel; K Fleiszar
Journal:  J Med Genet       Date:  1977-02       Impact factor: 6.318

5.  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

6.  Ring chromosome 8 in a boy with multiple congenital abnormalities and mental retardation.

Authors:  A J Hamers; C van Kempen
Journal:  J Med Genet       Date:  1977-12       Impact factor: 6.318

7.  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

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

Authors:  K R Kini; D L Van Dyke; L Weiss; M S Logan
Journal:  Hum Genet       Date:  1979       Impact factor: 4.132

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

Authors:  Seung Jae Lee; Dong Kyun Han; Hwa Jin Cho; Young Kuk Cho; Jae Sook Ma
Journal:  J Korean Med Sci       Date:  2012-07-25       Impact factor: 2.153

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

Authors:  Rui Zhang; Xuan Chen; Peiling Li; Xiumin Lu; Yu Liu; Yan Li; Liang Zhang; Mengnan Xu; David S Cram
Journal:  Mol Cytogenet       Date:  2016-04-21       Impact factor: 2.009
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.