Literature DB >> 640658

Partial trisomy 10p in two generations.

I W Lurie, G I Lazjuk, D B Gurevich, G I Kravtzoa, M K Nedzved, I A Shved.   

Abstract

Two cases of partial 10p trisomy due to a t(10;20)(p12;p12) in two generations of a family are presented. Analysis of 20 known cases of such aberrations confirmed the opinion of Schleiermacher et al. (1974) that partial trisomy 10p is a distinct clinically recognizable entity. The most important diagnostic features of this syndrome are dolichocephaly, prominent forehead, wide open sutures and fontanelles, broad root of the nose, cleft lip and palate, clubfoot, and cystic changes in kidneys.

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Year:  1978        PMID： 640658     DOI： 10.1007/BF00273107

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


  13 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.  Trisomy iop.

Authors:  E Yunis; R Silva; A Giraldo
Journal:  Ann Genet       Date:  1976-03

3.  Trisomy of the short arm of chromosome 10.

Authors:  Y Nakagome; H Kobayashi
Journal:  J Med Genet       Date:  1975-12       Impact factor: 6.318

4.  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

5.  Precise identification of various chromosomal abnormalities.

Authors:  K Hirschhorn; M Lucas; I Wallace
Journal:  Ann Hum Genet       Date:  1973-04       Impact factor: 1.670

6.  [A case of multiple congenital anomalies with familial C-G translocation].

Authors:  S Yanagisawa; K Adachi
Journal:  Jinrui Idengaku Zasshi       Date:  1970-03

7.  Partial trisomy 10p and familial translocation t(7;10)(p22;p12).

Authors:  G Johnson; R Bachman; T Roed; P Riddervold
Journal:  Hum Genet       Date:  1977-03-14       Impact factor: 4.132

8.  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

9.  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

10.  Partial trisomy 10p.

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

1.  A case of two inversion (10) recombinants in a family.

Authors:  P Roberts; J Williams; M A Sills
Journal:  J Med Genet       Date:  1989-07       Impact factor: 6.318

2.  Increased HK1 activity levels in the red cells of a patient with a de novo trisomy 10p: t(Y;10)(p11;p12).

Authors:  B Dallapiccola; L Chessa; P Vignetti; E Ferrante; E Gandini
Journal:  Hum Genet       Date:  1979       Impact factor: 4.132

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

Authors:  J P Fryns; J Deroover; J Haegeman; H Van den Berghe
Journal:  Hum Genet       Date:  1979-03-12       Impact factor: 4.132

Review 4.  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

5.  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

6.  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

Review 7.  Genetic factors in congenital diaphragmatic hernia.

Authors:  A M Holder; M Klaassens; D Tibboel; A de Klein; B Lee; D A Scott
Journal:  Am J Hum Genet       Date:  2007-04-04       Impact factor: 11.025

8.  Duplication deficiency as the result of meiotic segregation of a maternal InV (10).

Authors:  E Yunis; O Torres de Caballero
Journal:  Hum Genet       Date:  1981       Impact factor: 4.132

9.  Partial monosomy of chromosome 10 short arms.

Authors:  A Gencík; U Brönniman; R Tobler; P Auf der Maur
Journal:  J Med Genet       Date:  1983-04       Impact factor: 6.318

10.  Trisomy 10p due to a de novo t(10p;13p).

Authors:  V Aller; J A Abrisqueta; A Pérez-Castillo; J del Mazo; M A Martín-Lucas; M L de Torres
Journal:  Hum Genet       Date:  1979-01-25       Impact factor: 4.132
  10 in total

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