Literature DB >> 4310631

Chromosome abnormalities in patients with syndactyly.

P E Conen, M K Hampole, H G Thomson.   

Abstract

Chromosome studies on 105 patients with syndactyly included two trisomy-21 mongols, a chromatin-positive boy with 47, XXY, a chromatin-negative short girl with 45,X0 and a boy with a familial D/D translocation. Chromosome patterns were normal in the other cases which included three patients with acrocephalosyndactyly and one patient with oro-facial-digital syndrome.The incidence of chromosome abnormalies was greater than expected since syndactyly of the fingers is uncommon in the chromosome disorders.THIS INCIDENCE MAY BE RELATED TO THE INCREASED MATERNAL AGE (MEAN: 29.4 years) of the syndactyly group compared to maternal age (mean: 26.64 years) of the control group although, paradoxically, four mothers of the five patients with chromosome abnormalities were young.

Entities:  

Mesh:

Year:  1969        PMID: 4310631      PMCID: PMC1946518     

Source DB:  PubMed          Journal:  Can Med Assoc J        ISSN: 0008-4409            Impact factor:   8.262


  11 in total

1.  AUTOSOMAL ABNORMALITIES.

Authors:  D W SMITH
Journal:  Am J Obstet Gynecol       Date:  1964-12-01       Impact factor: 8.661

Review 2.  THE SEX CHROMOSOME ANOMALIES.

Authors:  O J MILLER
Journal:  Am J Obstet Gynecol       Date:  1964-12-01       Impact factor: 8.661

3.  Data on mongolism in Victoria, Australia: prevalence and life expectation.

Authors:  R D COLLMANN; A STOLLER
Journal:  J Ment Defic Res       Date:  1963-06

4.  The D-I trisomy syndrome.

Authors:  D W SMITH; K PATAU; E THERMAN; S L INHORN; R I DEMARS
Journal:  J Pediatr       Date:  1963-03       Impact factor: 4.406

5.  A simple method for short term cultures from small biopsies.

Authors:  P K BASRUR; V R BASRUR; J P GILMAN
Journal:  Exp Cell Res       Date:  1963-03       Impact factor: 3.905

6.  Multiple congenital abnormalities associated with ring chromosome.

Authors:  A D BAIN; I K GAULD
Journal:  Lancet       Date:  1963-08-10       Impact factor: 79.321

7.  The oral-facial-digital syndrome: a male-lethal condition in a boy with 47/xxy chromosomes.

Authors:  J Wahrman; M Berant; J Jacobs; I Aviad; N Ben-Hur
Journal:  Pediatrics       Date:  1966-05       Impact factor: 7.124

Review 8.  Congenital malformations in autosomal trisomy syndromes.

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

9.  A chromosome survey of 2,400 normal newborn infants.

Authors:  S Walzer; G Breau; P S Gerald
Journal:  J Pediatr       Date:  1969-03       Impact factor: 4.406

10.  Absent thumbs with a ring D2 chromosome: a new deletion syndrome.

Authors:  R S Sparkes; R E Carrel; S W Wright
Journal:  Am J Hum Genet       Date:  1967-09       Impact factor: 11.025

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  1 in total

1.  Phenotypic modifications of patients with full chromosome aneuploidies and concurrent suspected or confirmed second diagnoses.

Authors:  Yuri A Zarate; Katherine A Bosanko; Elizabeth Bhoj; Rebecca Ganetzky; Lois J Starr; Elaine H Zackai; G Bradley Schaefer
Journal:  Am J Med Genet A       Date:  2015-04-25       Impact factor: 2.802

  1 in total

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