Literature DB >> 121681

Ring chromosome 17 in a mentally retarded boy.

O H Qazi, C Madahar, R Kanchanapoomi, R Giridharan, E Beller.   

Abstract

A six-year-old boy was found to have a ring chromosome 17. In addition to psychomotor retardation, speech delay and seizure disorders, his abnormal phenotypic features included epicanthal folds, broad depressed nasal bridge, protruding thick upper and lower lips, micrognathia, narrow high arched palate, short fifth fingers with a mild degree of clinicodactyly, multiple café-aui-lait spots, and abnormal dermatoglyphics.

Entities:  

Mesh:

Year:  1979        PMID: 121681

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


  6 in total

1.  Miller-Dieker syndrome with ring chromosome 17.

Authors:  N Sharief; J Craze; D Summers; L Butler; C B Wood
Journal:  Arch Dis Child       Date:  1991-06       Impact factor: 3.791

2.  An infant with ring 17 chromosome and unusual dermatoglyphs: a new syndrome?

Authors:  N J Carpenter; L G Leichtman; S Stamper; B Say
Journal:  J Med Genet       Date:  1981-06       Impact factor: 6.318

Review 3.  Constitutional ring chromosomes and tumour suppressor genes.

Authors:  N Tommerup; R Lothe
Journal:  J Med Genet       Date:  1992-12       Impact factor: 6.318

4.  New chromosomal syndrome: Miller-Dieker syndrome and monosomy 17p13.

Authors:  R F Stratton; W B Dobyns; S D Airhart; D H Ledbetter
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132

5.  Ring Chromosome 17 Not Involving the Miller-Dieker Region: A Case with Drug-Resistant Epilepsy.

Authors:  Antonietta Coppola; Deborah Morrogh; Fiona Farrell; Simona Balestrini; Laura Hernandez-Hernandez; S Krithika; Josemir W Sander; Jonathan J Waters; Sanjay M Sisodiya
Journal:  Mol Syndromol       Date:  2017-09-15

Review 6.  Neurodevelopmental Genetic Diseases Associated With Microdeletions and Microduplications of Chromosome 17p13.3.

Authors:  Sara M Blazejewski; Sarah A Bennison; Trevor H Smith; Kazuhito Toyo-Oka
Journal:  Front Genet       Date:  2018-03-23       Impact factor: 4.599

  6 in total

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