Literature DB >> 1177285

Pseudohermaphroditism with clinical features of trisomy 19 in an infant trisomic for parts of chromosomes 16 and 18: 47,XY,der(18),t(16;18)(p12;q11)mat.

L M Stern, A R Mureh.   

Abstract

The case is presented of an infant who was diagnosed clinically as trisomy 18 with pseudohermaphroditism. Cytogenetic studies revealed an extra chromosome which represented a translocation chromosome derived from a balanced, reciprocal translocation between chromosomes 16 and 18: [der(18),t(16;18)(p12;q11)mat]. The infant's mother and a number of her relatives were found to be translocation carriers: ]46,XX,t(16;18)(p12;q11)].

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Year:  1975        PMID： 1177285      PMCID： PMC1013296          DOI： 10.1136/jmg.12.3.305

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


  4 in total

1.  Chromosome preparations of leukocytes cultured from human peripheral blood.

Authors:  P S MOORHEAD; P C NOWELL; W J MELLMAN; D M BATTIPS; D A HUNGERFORD
Journal:  Exp Cell Res       Date:  1960-09       Impact factor: 3.905

2.  Hormonal and clinical aspects of hermaphroditism and the testicular feminizing syndrome in man.

Authors:  P E Polani
Journal:  Philos Trans R Soc Lond B Biol Sci       Date:  1970-08-06       Impact factor: 6.237

3.  A rapid banding technique for human chromosomes.

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

Review 4.  Congenital malformations in autosomal trisomy syndromes.

Authors:  J Warkany; E Passarge; L B Smith
Journal:  Am J Dis Child       Date:  1966-12
  4 in total
  11 in total

1.  'De novo' trisomy 16q11 to pter.

Authors:  B Dallapiccola; P Curatolo; P Balestrazzi
Journal:  Hum Genet       Date:  1979-05-23       Impact factor: 4.132

2.  Partial trisomy 16q resulting from maternal translocation.

Authors:  P Balestrazzi; G Giovannelli; L Landucci Rubini; B Dallapiccola
Journal:  Hum Genet       Date:  1979-06-19       Impact factor: 4.132

Review 3.  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

4.  Partial trisomy 16p due to maternal balanced translocation.

Authors:  L E McMorrow; S Bornstein; R H Fischer; M M Gluckson
Journal:  J Med Genet       Date:  1984-08       Impact factor: 6.318

5.  Partial trisomy 18q in a newborn with typical 18 trisomy phenotype.

Authors:  J P Fryns; F Detavernier; A van Fleteren; H van den Berghe
Journal:  Hum Genet       Date:  1978-10-31       Impact factor: 4.132

6.  Trisomy 16p in a liveborn infant and a review of partial and full trisomy 16.

Authors:  S H Roberts; D P Duckett
Journal:  J Med Genet       Date:  1978-10       Impact factor: 6.318

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.  A Case of Agonadism, Skeletal Malformations, Bicuspid Aortic Valve, and Delayed Development with a 16p13.3 Duplication Including GNG13 and SOX8 Upstream Enhancers: Are Either, Both or Neither Involved in the Phenotype?

Authors:  R P Erickson; S A Yatsenko; K Larson; S W Cheung
Journal:  Mol Syndromol       Date:  2010-11-13

9.  Trisomy 18q. A case report and review of karyotype-phenotype correlations.

Authors:  R Matsuoka; S Matsuyama; Y Yamamoto; Y Kuroki; I Matsui
Journal:  Hum Genet       Date:  1981       Impact factor: 4.132

10.  47,XX,+der(18),t(9;18)(p24;q21) mat: a distinct partial trisomy 18q--syndrome?

Authors:  H N Bass; F Weber-Parisi; R S Sparkes
Journal:  J Med Genet       Date:  1978-10       Impact factor: 6.318
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