Partial trisomy 3q causing mild Cornelia de Lange phenotype

S E Holder; L M Grimsley; R W Palmer; L J Butler; M Baraitser

doi:10.1136/jmg.31.2.150

Partial trisomy 3q causing mild Cornelia de Lange phenotype

J Med Genet. 1994 Feb;31(2):150-2. doi: 10.1136/jmg.31.2.150.

Authors

S E Holder¹, L M Grimsley, R W Palmer, L J Butler, M Baraitser

Affiliation

¹ Mothercare Unit of Clinical Genetics, Institute of Child Health, London, UK.

Abstract

A brother and sister are reported with developmental delay and facial features suggestive of the Cornelia de Lange syndrome. Cytogenetic analysis showed them to be trisomic for the region 3q25.1-26.2 because of the inheritance of an unbalanced interchromosomal insertion from their father, who was a balanced insertion carrier. The clinical phenotype and cytogenetic analysis (including chromosome painting studies) in relation to the possible localisation of the Cornelia de Lange gene are discussed.

Publication types

Case Reports

MeSH terms

Child, Preschool
Chromosomes, Human, Pair 3*
De Lange Syndrome / genetics*
Female
Humans
Infant
Karyotyping
Male
Nuclear Family
Trisomy*