Partial trisomy 3q causing mild Cornelia de Lange phenotype.
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.
Holder
S E
SE
Mothercare Unit of Clinical Genetics, Institute of Child Health, London, UK.
Grimsley
L M
LM
Palmer
R W
RW
Butler
L J
LJ
Baraitser
M
M
D002675:Child, Preschool; D002893:Chromosomes, Human, Pair 3; D003635:De Lange Syndrome / Q000235:genetics*; D005260:Female; D006801:Humans; D007223:Infant; D007621:Karyotyping; D008297:Male; D009679:Nuclear Family; D014314:Trisomy