Literature DB >> 7334509

Partial trisomy 12q: report of a case and review.

S H Roberts, T Mattina, K M Laurence, G Sorge, L Pavone.   

Abstract

A malformed male infant with pure partial trisomy 12q (q24.1 leads to qter), resulting from an unbalanced segregation of a paternal balanced translocation t(2;12)(q37;q24.1), is described. The cytogenetic and clinical abnormalities of the proband are compared with those of four previously reported cases of partial trisomy 12q, two of which also appear to have pure trisomy of segment 12q24.1 leads to 12 qter.

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Year:  1981        PMID： 7334509      PMCID： PMC1048798          DOI： 10.1136/jmg.18.6.470

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


  17 in total

1.  Balanced translocations involving chromosome 12: report of a case and possible evidence for position effect.

Authors:  B Biederman; P Bowen
Journal:  Ann Genet       Date:  1976-12

2.  [Identification by Q and G bands of chromosome anomalies in spontaneous abortion].

Authors:  J Boué; M J Daketsé; C Deluchat; N Ravisé; F Yvert; A Boué
Journal:  Ann Genet       Date:  1976-12

3.  Chromosome anomalies of infants dying during the perinatal period and premature newborn.

Authors:  N P Kuleshov
Journal:  Hum Genet       Date:  1976-02-29       Impact factor: 4.132

4.  Partial trisomy 12 in a mentally retarded boy and translocation (12;21) in his mother.

Authors:  N Hobolth; P Jacobsen; M Mikkelsen
Journal:  J Med Genet       Date:  1974-09       Impact factor: 6.318

5.  Partial trisomy 11 in a child resulting from a complex maternal rearrangement of chromosomes 11, 12 and 13.

Authors:  O Sanchez; J J Yunis; J I Escobar
Journal:  Humangenetik       Date:  1974-04-24

6.  Frequency of deletion of short arm satellites in acrocentric chromosomes.

Authors:  J Nielsen; U Friedrich; A B Hreidarsson
Journal:  J Med Genet       Date:  1974-06       Impact factor: 6.318

7.  A rapid banding technique for human chromosomes.

Authors:  M Seabright
Journal:  Lancet       Date:  1971-10-30       Impact factor: 79.321

8.  Precise identification of various chromosomal abnormalities.

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

9.  Chromosome constitution of 500 infants dying during the perinatal period. With an appendix concerning other genetic disorders among these infants.

Authors:  G A Machin; J A Crolla
Journal:  Humangenetik       Date:  1974

10.  Trisomy 12 mosaicism in an infertile man.

Authors:  C L Richer; G Bleau; A Chapdelaine
Journal:  Can J Genet Cytol       Date:  1977-09
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  5 in total

1.  Partial trisomy 12q24.31----qter.

Authors:  E H Tajara; M Varella-Garcia; A C Gusson
Journal:  J Med Genet       Date:  1985-02       Impact factor: 6.318

Review 2.  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

3.  Partial trisomy 12q: a clinically recognisable syndrome. Genetic risks associated with translocations of chromosome 12q.

Authors:  N R Pratt; D T Bulugahapitiya
Journal:  J Med Genet       Date:  1983-04       Impact factor: 6.318

4.  TBX5 intragenic duplication: a family with an atypical Holt-Oram syndrome phenotype.

Authors:  Chirag Patel; Lee Silcock; Dominic McMullan; Louise Brueton; Helen Cox
Journal:  Eur J Hum Genet       Date:  2012-02-15       Impact factor: 4.246

Review 5.  Mosaicism for duplication 12q (12q13-->q24.2) in a dysmorphic male infant.

Authors:  J W Dixon; T Costa; I E Teshima
Journal:  J Med Genet       Date:  1993-01       Impact factor: 6.318
  5 in total

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