Literature DB >> 1018309

Severe mental retardation in a boy with partial trisomy 10q and partial monosomy 2q.

J A Sills, K E Buckton, J A Raeburn.   

Abstract

A severely mentally subnormal child with many physical stigmata was shown to have the karyotype 46,XY,-2,+der(2),t(2;10)(q31;q24)pat. Full evaluation of this patient's karyotype depended on the family studies. It was shown that a balanced translocation t(2,10) was present in 4 normal males in 3 generations.

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Year:  1976        PMID： 1018309      PMCID： PMC1013478          DOI： 10.1136/jmg.13.6.507

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  15 in total

1.  [Familial balanced translocation t(2; 13) (q32; q33) and partial trisomy 2q].

Authors:  A Forabosco; B Dutrillaux; G Toni; G Tamborino; G Cavazzuti
Journal:  Ann Genet       Date:  1973-12

2.  [Partial trisomy 10q dueto familial translocation t(10q-; 22p-plus)].

Authors:  C Roux; J L Taillemite; G Baheux-Morlier
Journal:  Ann Genet       Date:  1974-03

3.  A familial 10/13 translocation: partial trisomy C in an infant associated with familial 10/13 translocation.

Authors:  M T Mulcahy; J Jenkyn; P L Masters
Journal:  Clin Genet       Date:  1974       Impact factor: 4.438

4.  New technique for distinguishing between human chromosomes.

Authors:  A T Sumner; H J Evans; R A Buckland
Journal:  Nat New Biol       Date:  1971-07-07

5.  [2 familial translocations occurring together in each of 2 sisters, one balanced, the other partial trisomic 10q].

Authors:  J de Grouchy; C Finaz; M Roubin; J Roy
Journal:  Ann Genet       Date:  1972-06

6.  A new syndrome resulting from partial trisomy for the distal third of the long arm of chromosome 10.

Authors:  J J Yunis; O Sanchez
Journal:  J Pediatr       Date:  1974-04       Impact factor: 4.406

7.  Inherited translocations in two families (t(14q+;10q-) and t(13q-;21q+)).

Authors:  T Talvik; A V Mikelsaar; R Mikelsaar; M Käosaar; S Tüür
Journal:  Humangenetik       Date:  1973-09-20

8.  Quinacrine mustard fluorescence of human chromosomes: characterization of unusual translocations.

Authors:  U Francke
Journal:  Am J Hum Genet       Date:  1972-03       Impact factor: 11.025

9.  [Partial trisomy 10 due to hereditary translocation t(1;10)(q44;q22)].

Authors:  C Laurent; M Bovier-Lapierre; B Dutrillaux
Journal:  Humangenetik       Date:  1973

10.  Partial trisomy 10q occurring in a family with a reciprocal translocation t(10;18)(q25;q23).

Authors:  S Kroyer; E Niebuhr
Journal:  Ann Genet       Date:  1975-03
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  11 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.  Interstitial deletion of the short arm of chromosome 2 in a moderately mentally retarded boy without gross clinical stigmata.

Authors:  J P Fryns; P De Waele; H Van Den Berghe
Journal:  Hum Genet       Date:  1979-10-01       Impact factor: 4.132

Review 4.  Viability thresholds for partial trisomies and monosomies. A study of 1,159 viable unbalanced reciprocal translocations.

Authors:  O Cohen; C Cans; M A Mermet; J Demongeot; P Jalbert
Journal:  Hum Genet       Date:  1994-02       Impact factor: 4.132

5.  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

6.  Interstitial deletion (2)(p13p15).

Authors:  D Duca; D Ioan; P Meilă; M Ionescu-Cerna; L Simionescu; C Maximilian
Journal:  Hum Genet       Date:  1981       Impact factor: 4.132

7.  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

8.  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

9.  Interstitial deletion of the long arm of chromosome 2 in a polymalformed newborn--karyotype: 46,XX,del(2)(q21;q24).

Authors:  J P Fryns; B Van Bosstraeten; H Malbrain; H Van den Berghe
Journal:  Hum Genet       Date:  1977-11-10       Impact factor: 4.132

10.  Pure monosomy and trisomy 2q24.2----q3105 due to an inv ins(7;2)(q21.2;q3105q24.2) segregating in four generations.

Authors:  M Moller; D García-Cruz; H Rivera; J Sánchez-Corona; J M Cantú
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132
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