Literature DB >> 437788

Partial duplication of the short arm of chromosome 10. Karyotype: 46,XX,dup(10p)(pter to p12::p12::p12 to qter).

J P Fryns, J Deroover, J Haegeman, H Van den Berghe.   

Abstract

A 21-year-old mentally retarded female with 10p12 trisomy is reported. She presented a slight craniofacial dysmorphism very similar to that found in the full 10p-trisomy syndrome. Other features usually found in full 10p trisomy, however, such as failure to thrive and internal malformations, were absent.

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Year:  1979        PMID： 437788     DOI： 10.1007/bf00273206

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  16 in total

1.  [2 cases of partial trisomy 10p due to a paternal translocation t(10p;18)(p13;q23)].

Authors:  S Morić-Petrović; Z Laća; A Krajgher; J Milośevic
Journal:  Ann Genet       Date:  1976-09

2.  [Partial trisomy 10p of paternal origin. 2 new cases in 2 different families].

Authors:  M Rolland; G Bourrouillou; G Elana; P Colombies; C Regnier
Journal:  Ann Genet       Date:  1977-09

3.  Trisomy for the short arm of chromosome No. 10.

Authors:  T W Hustinx; B G Ter Haar; J M Scheres; F J Rutten
Journal:  Clin Genet       Date:  1974       Impact factor: 4.438

4.  Serial duplication of 10 (q11 leads to q22) in a patient with minor congenital malformations.

Authors:  W Vogel; E Back; W Imm
Journal:  Clin Genet       Date:  1978-02       Impact factor: 4.438

5.  Partial trisomy 10p in two generations.

Authors:  I W Lurie; G I Lazjuk; D B Gurevich; G I Kravtzoa; M K Nedzved; I A Shved
Journal:  Hum Genet       Date:  1978-03-17       Impact factor: 4.132

6.  Trisomy for the short arm of chromosome No. 10.

Authors:  V B Penchaszadeh; R Coco
Journal:  J Genet Hum       Date:  1977-10

7.  Trisomy iop. A report of two cases due to a familial translocation rcp (10;21) (pII;pII).

Authors:  J M Cantu; F Salamanca; L Buentello; A Carnevale; S Armendares
Journal:  Ann Genet       Date:  1975-03

8.  Exclusion gene mapping utilizing patients with chromosome imbalance: the HL-A system as a prototype.

Authors:  R E Magenis; K Overton; H Wyandt; T Bergstrom; F Hecht; E Lovrien
Journal:  Humangenetik       Date:  1975

9.  Partial trisomy 10p.

Authors:  K P Grosse; G Schwanitz; H Singer; V Wieczorek
Journal:  Humangenetik       Date:  1975-09-10

10.  Trisomy 10p due to t(5;10)(p15;p11) segregating in a large sibship.

Authors:  E Back; W Vogel; C Hertel; L Schuchmann
Journal:  Hum Genet       Date:  1978-02-23       Impact factor: 4.132
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  2 in total

1.  Two chromosomal syndromes in the same family: monosomy and trisomy for part of the short arm of chromosome 10.

Authors:  S Slinde; I L Hansteen
Journal:  Eur J Pediatr       Date:  1982-10       Impact factor: 3.183

2.  Duplication of chromosome 10p: confirmation of regional assignments of platelet-type phosphofructokinase.

Authors:  S Schwartz; M M Cohen; S R Panny; J H Beisel; S Vora
Journal:  Am J Hum Genet       Date:  1984-07       Impact factor: 11.025
  2 in total

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