Partial duplication 2p as the sole abnormality in two cases with anencephaly.
Anencephaly/NTD has been observed in aneuploid and non-aneuploid individuals. We present two cases of anencephaly diagnosed prenatally with partial duplication of the short arm of chromosome 2 as the sole abnormality. The absence of aneuploidy involving other regions of the genome in these cases, further substantiates suggestions of the existence of a gene or genes on the short arm of chromosome 2 critical in the development of the central nervous system.
Thangavelu
Maya
M
Genzyme Genetics, Orange, California, USA. Maya.Thangavelu@genzyme.com
Frolich
Gary
G
Rogers
David
D
D000757:Anencephaly / Q000196:embryology / Q000235:genetics* / Q000473:pathology; D002869:Chromosome Aberrations; D002871:Chromosome Banding; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics*; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D008297:Male; D011247:Pregnancy; D016216:Ultrasonography, Prenatal