Literature DB >> 1184398

Trisomy of the distal third of the long arm of chromosome 10. Report of a new case due to a familial translocation t(10;18) (q24;p11).

A Forabosco, S Bernasconi, G Giovannelli, B Dutrillaux.   

Abstract

A new case of trisomy of the distal third of the long arm of chromosome 10 due to familial translocation t(10;18) (q24;p11) is described. The main clinical and radiological signs may be summarized as follows: growth at lower limits of normal; poor facial expression; round, flat face with high, broad forehead, fine, highly arched eyebrows, pseudohyperthelorism, microphthalmia, flat, broad bridged nose, hypoplasia of the bony structures of the central area of the face, "fish mouth", macroglossia, micrognathia; short neck; marked dextroconvex lumbar scoliosis; psychomotor delay of mild degree; selective, more pronounced speech delay. Our observation confirms the suggestion by Yunis and Sanchez that a clinical syndrome corresponds to this chromosomal alteration. However, some interesting differences from the previously reported cases, i.e., the absence of microcephaly and of severe impairment of growth and psychomotor development induce us to establish a more favorable prognosis in our case.

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Year:  1975        PMID: 1184398

Source DB:  PubMed          Journal:  Helv Paediatr Acta        ISSN: 0018-022X


  4 in total

1.  Distal 10q trisomy syndrome with unusual cardiac and pulmonary abnormalities.

Authors:  J Davies; A Jaffé; A Bush
Journal:  J Med Genet       Date:  1998-01       Impact factor: 6.318

2.  Partial trisomy 10q: a recognizable syndrome.

Authors:  J M Klep-de Pater; J B Bijlsma; H F de France; N J Leschot; M Duijndam-van den Berge; J O van Hemel
Journal:  Hum Genet       Date:  1979-01-19       Impact factor: 4.132

3.  Familial translocation t(10;21)(q22;q22).

Authors:  A Delicado; I L Pajares; P Vicente; F Hawkins
Journal:  Hum Genet       Date:  1979-09       Impact factor: 4.132

4.  Distal trisomy 10q syndrome, report of a patient with duplicated q24.31 - qter, autism spectrum disorder and unusual features.

Authors:  Yasser Al-Sarraj; Hakam Abu Al-Khair; Rowaida Ziad Taha; Namat Khattab; Zakaria H El Sayed; Bushra Elhusein; Hatem El-Shanti
Journal:  Clin Case Rep       Date:  2014-07-25
  4 in total

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