Literature DB >> 3585945

Partial trisomy 6q: case report with necropsy findings.

C J Franchino, D Beneck, M A Greco, S R Wolman.   

Abstract

A male infant with partial trisomy 6q is described. This patient shares features with 12 previously reported cases including hypertelorism, cleft soft palate, bow shaped mouth, micrognathia, short, laterally webbed neck, clubbing of hands and feet, syndactyly, and growth retardation. In addition, visceral anomalies less frequently reported are described. These observations may extend the phenotypic characterisation of the trisomy 6q syndrome.

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Mesh：

Year:  1987        PMID： 3585945      PMCID： PMC1050056          DOI： 10.1136/jmg.24.5.300

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


  8 in total

1.  [Partial trisomy for the long arm of a C chromosome (?6) through t(Gp+;Cqs+) translocation].

Authors:  J de Grouchy; I Emerit; J Aicardi
Journal:  Ann Genet       Date:  1969-06

2.  Partial trisomy 6.

Authors:  N Fitch
Journal:  Clin Genet       Date:  1978-09       Impact factor: 4.438

3.  Semen analysis in subfertile balanced-translocation carriers.

Authors:  D Marmor; J L Taillemite; J Van den Akker; M F Portnoi; N le Porrier; N Joye; D Delafontaine; C Roux
Journal:  Fertil Steril       Date:  1980-11       Impact factor: 7.329

4.  Familial partial trisomy: 6q25 leads to 6qter.

Authors:  D Duca; M Bene; D Ioan; C Maximilian
Journal:  J Genet Hum       Date:  1980-03

5.  An infant with trisomy 6q21 leads to 6qter.

Authors:  R L Neu; J U Gallien; N Steinberg-Warren; R J Wynn; R M Bannerman
Journal:  Ann Genet       Date:  1981

6.  Trisomy 6qter.

Authors:  C Turleau; J de Grouchy
Journal:  Clin Genet       Date:  1981-03       Impact factor: 4.438

7.  Duplication 6q24 leads to 6qter in an infant from a balanced paternal translocation.

Authors:  T R Chase; S M Jalal; J T Martsolf; W A Wasdahl
Journal:  Am J Med Genet       Date:  1983-02

8.  Duplication 6q syndrome.

Authors:  R E Tipton; J S Berns; W E Johnson; R S Wilroy; R L Summitt
Journal:  Am J Med Genet       Date:  1979
  8 in total
  3 in total

1.  Localisation of a gene for transient neonatal diabetes mellitus to an 18.72 cR3000 (approximately 5.4 Mb) interval on chromosome 6q.

Authors:  R J Gardner; A J Mungall; I Dunham; J C Barber; J P Shield; I K Temple; D O Robinson
Journal:  J Med Genet       Date:  1999-03       Impact factor: 6.318

Review 2.  Partial duplication of the long arm of chromosome 6: a clinically recognisable syndrome.

Authors:  E K Pivnick; M B Qumsiyeh; A T Tharapel; J B Summitt; R S Wilroy
Journal:  J Med Genet       Date:  1990-08       Impact factor: 6.318

3.  Partial paternal uniparental disomy of chromosome 6 in an infant with neonatal diabetes, macroglossia, and craniofacial abnormalities.

Authors:  S Das; C M Lese; M Song; J L Jensen; L A Wells; B L Barnoski; J A Roseberry; J M Camacho; D H Ledbetter; R E Schnur
Journal:  Am J Hum Genet       Date:  2000-10-18       Impact factor: 11.025
  3 in total

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