Literature DB >> 6604490

Partial trisomy 10q in three unrelated patients.

K Taysi, V Yang, N Monaghan, N Beraha.   

Abstract

This communication describes three unrelated patients with growth and psychomotor retardation, multiple congenital anomalies, and dysmorphic features who were found to have trisomies for the different long arm segments of chromosome 10. After reviewing the clinical and cytogenetic data from the literature and our three patients we concluded that: a) There are at least two different clinical syndromes associated with long arm trisomy of chromosome 10 only one of which, the well known 10q trisomy syndrome, is characterized with specific clinical features. The only trisomic segment common in this latter group of patients with similar phenotype, yet with different trisomic segments, is the distal two bands, q25 and q26. Therefore the determinants for the well-delineated 10q trisomy syndrome seems to be located on the distal bands q25 and q26 and this syndrome would preferably be named "distal 10q trisomy syndrome". b) The patients with proximal and/or middle long arm segment trisomies of chromosome 10 are rare and they have yet undefined clinical features.

Entities:  

Mesh:

Year:  1983        PMID: 6604490

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


  3 in total

1.  Partial 10q trisomy with partial 12q monosomy.

Authors:  N Mitsufuji; S Tokuda; H Nakanoin; H Yoshioka; T Sawada
Journal:  Arch Dis Child       Date:  1997-12       Impact factor: 3.791

2.  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

3.  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
  3 in total

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