Literature DB >> 1083188

[Trisomy 10q24--10qter].

B Dutrillaux, C Laurent, S Bernasconi, J Lejeune.   

Abstract

The syndrome of trisomy 10q24leads to 10qter is described from three patients studied by the authors and five cases reported from the literature. The characteristic dysmorphy of the syndrome, although different from that of trisomy 21, nevertheless is reminiscent because of euroasiatic facies. The facies is broad, round, because of euroasiatic facies. The facies is broad, round, and flat, with a prominent malar region and a high and convex forehead. Palpebral fissures are narrow with bilateral epicanthal folds, and the nasal bridge is hypoplasitc. Marked joint laxity allows spontaneous and reductible subluxations. Growth retardation is the rule, and mental retardation is severe. No specific dermatoglyphic abnormalities are noted; there is a gap between the first and second toes, with a marked plantar crease separating them. Although trisomy 10q24leads to10qter results from various terminal translocations or pericentric inversion in one case, the location of the breakage point in band 10q24 suggests a particular lability of this zone.

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Year:  1975        PMID: 1083188

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


  5 in total

1.  Severe mental retardation in six generations of a large South African family carrying a translocation t(6;10)(q27;q25.2).

Authors:  J Brusnický; K M van Heerden; G de Jong; A S Cronjé; A E Retief
Journal:  J Med Genet       Date:  1986-10       Impact factor: 6.318

Review 2.  Factors predisposing to adjacent 2 and 3:1 disjunctions: study of 161 human reciprocal translocations.

Authors:  P Jalbert; B Sele
Journal:  J Med Genet       Date:  1979-12       Impact factor: 6.318

3.  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

4.  Reciprocal translocations: a way to predict the mode of imbalanced segregation by pachytene-diagram drawing.

Authors:  P Jalbert; B Sele; H Jalbert
Journal:  Hum Genet       Date:  1980       Impact factor: 4.132

5.  Systematic analysis of 95 reciprocal translocations of autosomes.

Authors:  A Aurias; M Prieur; B Dutrillaux; J Lejeune
Journal:  Hum Genet       Date:  1978-12-29       Impact factor: 4.132

  5 in total

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