Supernumerary marker chromosomes 5: confirmation of a critical region and resultant phenotype.
A critical region exists at 5p13 for the phenotype associated with duplication 5p. Two unrelated Polynesian children are reported with supernumerary marker chromosomes (SMCs) 5. This brings to seven the total of reported SMCs derived from chromosome 5. The phenotype is clear, and the level of mosaicism of the marker chromosomes is contributory to the clinical severity.
Northern Regional Genetic Service, Auckland District Health Board, New Zealand.
Loredana
L
D'Amato Sizonenko
Daniel
D
Ng
Paul
P
Oei
Ingrid
I
Winship
D000015:Abnormalities, Multiple / Q000235:genetics*; D002871:Chromosome Banding; D025063:Chromosome Disorders / Q000235:genetics* / Q000473:pathology; D002895:Chromosomes, Human, Pair 5 / Q000235:genetics*; D003025:Clubfoot / Q000235:genetics; D005145:Face / Q000002:abnormalities; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D009030:Mosaicism; D010641:Phenotype; D012303:Ring Chromosomes; D014314:Trisomy