Literature DB >> 3184143

Trisomy 3p23----pter and monosomy 11q23----qter in an infant with two translocation carrier parents.

R L Neu1, B G Kousseff, D E Hardy, Y P Essig, K L Miller, G A Jervis, T A Tedesco.   

Abstract

A newborn male infant with multiple congenital abnormalities was found to be trisomic for 3p23----pter and monosomic for 11q23----qter. His parents were both carriers of a balanced reciprocal translocation. Considerable overlap in phenotype-karyotype correlations was found between the two chromosomal syndromes in the patient.

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Year:  1988        PMID： 3184143      PMCID： PMC1051543          DOI： 10.1136/jmg.25.9.631

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


  5 in total

1.  [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

2.  The offspring of marriage between two first cousins with the same reciprocal translocation t(2;7)(p11;q31).

Authors:  G Simoni; L Dalprà; G L Terzoli; F Rossella; M G Tibiletti
Journal:  Hum Genet       Date:  1980       Impact factor: 4.132

3.  Double balanced chromosomal translocation carrier (6;8), (13;14)--a case report.

Authors:  R G Hansen; R L Anderson; J M Rary
Journal:  J Hered       Date:  1983 Nov-Dec       Impact factor: 2.645

4.  Duplication 3p syndrome: report of a new case and review of the literature.

Authors:  J Charrow; M M Cohen; D Meeker
Journal:  Am J Med Genet       Date:  1981

5.  Craniosynostosis and syndactyly: expanding the 11q-- chromosomal deletion phenotype.

Authors:  B M Lippe; R S Sparkes; B Fass; L Neidengard
Journal:  J Med Genet       Date:  1980-12       Impact factor: 6.318
  5 in total

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