Format

Send to

Choose Destination
See comment in PubMed Commons below
Clin Genet. 1990 Mar;37(3):226-9.

Sotos syndrome and de novo balanced autosomal translocation (t(3;6)(p21;p21))

Author information

1
Department of Genetics, Academic Hospital Maastricht, State University of Limburg, The Netherlands.

Abstract

In this report we describe a 6-year-old boy with Sotos syndrome and a de novo apparently balanced 3/6 translocation (karyotype: 46,XY,t(3;6)(p21;p21)). Pre- and postnatal overgrowth are observed in an increasing number of conditions of variable etiology. In the Sotos syndrome autosomal dominant inheritance with variable expression has been documented. Here we discuss the importance of the cytogenetic findings and postulate a relationship between the invisible loss of chromosomal material at 3p21 and/or 6p21 and the expression of the autosomal dominant gene.

PMID:
2323093
[Indexed for MEDLINE]
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for Wiley
    Loading ...
    Support Center