A trisomy 2 fetus with severe neural tube defects and other abnormalities.
Examination of an abortus from a 13 week miscarriage revealed a fetus of around 9 weeks developmental age with multiple abnormalities including microcephaly, iniencephaly and encephalocele continuous with cervical and thoracic spina bifida, whose karyotype was subsequently shown to be 47,XY, + 2.
Seller
Mary J
MJ
Department of Medical and Molecular Genetics, The Guy's, King's and St Thomas' Hospitals School of Medicine, King's College London, UK. mary.seller@kcl.ac.uk
Mazzaschi
Roberto
R
Ogilvie
Caroline Mackie
CM
Mohammed
Shehla
S
D000015:Abnormalities, Multiple; D000022:Abortion, Spontaneous; D002869:Chromosome Aberrations; D002889:Chromosomes, Human, Pair 2; D004424:Ear Canal / Q000473:pathology; D005260:Female; D005315:Fetal Diseases / Q000473:pathology; D006801:Humans; D007621:Karyotyping; D008831:Microcephaly / Q000235:genetics / Q000473:pathology; D009432:Neural Crest / Q000002:abnormalities*; D009436:Neural Tube Defects / Q000235:genetics*; D011247:Pregnancy; D016135:Spinal Dysraphism / Q000235:genetics / Q000473:pathology*; D014314:Trisomy