Literature DB >> 572449

[Interstitial deletion of a chromosome nr. 13: a new syndrome? (author's transl)].

P Weisswichert, W Stögmann.   

Abstract

We report on a 7-year-aged girl with severe mental and physical retardation, short stature and malformations of the face and limbs. In the karyogramm an interstitial deletion of the long arm of a chromosome Nr. 13 was found. The karyotypes of the parents, the girl's brother and of three of her sisters were normal. In the discussion the symptoms of the few hitherto published cases with interstitial or terminal deletion of the chromosome 13 are compared. Till now, however, it is not possible to attach particular symptoms of 13q- -- syndromes to certain bands of the chromosome Nr. 13.

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Year:  1979        PMID: 572449

Source DB:  PubMed          Journal:  Klin Padiatr        ISSN: 0300-8630            Impact factor:   1.349


  1 in total

1.  Interstitial del(13)(q21.3q31) associated with psychomotor retardation, eczema, and absent suck and swallowing reflex.

Authors:  P J Peet; R R Pereira; J O Van Hemel; A J Hoogeboom
Journal:  J Med Genet       Date:  1987-12       Impact factor: 6.318

  1 in total

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