Literature DB >> 717293

Ring chromosome 13 in a child with minor dysmorphic features. Irregular phenotypic expression of ring 13 syndrome.

R S Verma, H Dosik, I H Chowdhry, R C Jhaveri.   

Abstract

A patient with ring chromosome 13 had some physical and stigmata that to our knowledge have not been reported in previous articles. These include alopecia, scattered pigmentation, trigonocephaly, and telecanthic fold. This case reemphasizes how mitotic instability can produce clinical features during the critical period of organogenesis.

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Year:  1978        PMID: 717293     DOI: 10.1001/archpedi.1978.02120350082018

Source DB:  PubMed          Journal:  Am J Dis Child        ISSN: 0002-922X


  7 in total

1.  Study of two cases of ring 13 chromosome using high-resolution banding.

Authors:  I M Jones; C G Palmer; D D Weaver; M E Hodes
Journal:  Am J Hum Genet       Date:  1981-03       Impact factor: 11.025

2.  13q-/r(13) mosaicism.

Authors:  T Tamura; M Umetsu; H Motoya; N Niikawa
Journal:  Eur J Pediatr       Date:  1981-03       Impact factor: 3.183

3.  The ring chromosome 13 syndrome.

Authors:  N J Martin; P J Harvey; J H Pearn
Journal:  Hum Genet       Date:  1982       Impact factor: 4.132

4.  Sister chromatid differentiation and isolabeling of chromosomes.

Authors:  S Ved Brat; R S Verma; H Dosik
Journal:  Hum Genet       Date:  1981       Impact factor: 4.132

Review 5.  Ring chromosome 13: lack of distinct syndromes based on different breakpoints on 13q.

Authors:  C A Brandt; J M Hertz; M B Petersen; F Vogel; H Noer; M Mikkelsen
Journal:  J Med Genet       Date:  1992-10       Impact factor: 6.318

6.  13q-/r(13) mosaicism.

Authors:  N Niikawa; T Tamura; F Tomiyasu; T Kajii
Journal:  J Med Genet       Date:  1980-08       Impact factor: 6.318

7.  Clinical features in a case with ring chromosome 13.

Authors:  B Parcheta; L Wisniewski; E Piontek; J Szymanska; W Skawinski; K Wermenski
Journal:  Eur J Pediatr       Date:  1985-11       Impact factor: 3.183

  7 in total

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