Rapid karyotypic diagnosis of a case of trisomy 18 in the neonatal intensive care unit.
Recent modifications in the technic of bone marrow preparation for karyotypic analysis permit confirmation of chromosomal aneuploidy such as trisomy 13, 18, or 21 within two to four hours. The patient reported illustrates how the technic of bone marrow karyotyping may assist the pediatrician in treating an acutely ill newborn, in accurately counseling parents, and in selecting with them an appropriate course of management.
D000015:Abnormalities, Multiple; D000328:Adult; D000782:Aneuploidy; D001853:Bone Marrow; D002902:Chromosomes, Human, 16-18; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007362:Intensive Care Units; D007621:Karyotyping; D009030:Mosaicism; D012886:Skull / Q000002:abnormalities*; D013577:Syndrome; D014314:Trisomy