Literature DB >> 7067161

Four siblings with Robert's syndrome.

L Zergollern, V Hitrec.   

Abstract

A Yugoslav family with one female and three male children with Robert's syndrome (RS) is described. To our knowledge, there is no other family with four siblings presenting this genopathy. Most of the symptoms of the fourth sibling were identical to those found in the SC syndrome, suggesting the same genetic origin. The same chromosomal changes which were discovered in the third sibling were also found in the fourth sibling. These chromosomal abnormalities could prove useful for antenatal diagnosis.

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Year:  1982        PMID: 7067161     DOI: 10.1111/j.1399-0004.1982.tb02071.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN: 0009-9163            Impact factor:   4.438


  6 in total

Review 1.  C-anaphases in lymphocyte cultures versus premature centromere division syndromes.

Authors:  Y Chamla
Journal:  Hum Genet       Date:  1988-02       Impact factor: 4.132

Review 2.  A review of supernumerary and absent limbs and digits of the upper limb.

Authors:  Zachary Klaassen; Monica Choi; Ruth Musselman; Deborah Eapen; R Shane Tubbs; Marios Loukas
Journal:  Surg Radiol Anat       Date:  2011-11-09       Impact factor: 1.246

3.  Mapping of a single locus capable of complementing the defective heterochromatin phenotype of Roberts syndrome cells.

Authors:  Lisa D McDaniel; Darrell J Tomkins; Eric J Stanbridge; Martin J Somerville; Errol C Friedberg; Roger A Schultz
Journal:  Am J Hum Genet       Date:  2005-05-10       Impact factor: 11.025

4.  Chromatid repulsion associated with Roberts/SC phocomelia syndrome is reduced in malignant cells and not expressed in interspecies somatic-cell hybrids.

Authors:  N E Krassikoff; J M Cowan; D M Parry; U Francke
Journal:  Am J Hum Genet       Date:  1986-11       Impact factor: 11.025

5.  Roberts-SC syndrome, a rare syndrome and cleft palate repair.

Authors:  Jyotsna Murthy; Madhu Dewan; Altaf Hussain
Journal:  Indian J Plast Surg       Date:  2008-07

6.  Tetra-amelia with multiple malformations in six male fetuses of one kindred.

Authors:  E Z Zimmer; E Taub; Y Sova; M Y Divon; M Pery; B A Peretz
Journal:  Eur J Pediatr       Date:  1985-11       Impact factor: 3.183

  6 in total

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