Trisomy 1 mosaicism only detected on a direct chromosome preparation in a neonate.
A patient is described with trisomy 1 mosaicism which was discovered on 24-h culture of a neonatal blood sample, but was not detectable on subsequent 48- and 72-h cultures. This result complements other recent reports and has important implications for the detection of mosaicism in neonates.
Howard
P J
PJ
Department of Cytogenetics and Clinical Genetics, Royal Liverpool University Hospital, UK.
Cramp
C E
CE
Fryer
A E
AE
D000015:Abnormalities, Multiple / Q000235:genetics*; D002878:Chromosomes, Human, Pair 1; D017809:Fatal Outcome; D006801:Humans; D008297:Male; D009030:Mosaicism; D014314:Trisomy