Monosomy 18q12.1----21.1: a recognizable aneuploidy syndrome? Report of a patient and review of the literature.
This report of a patient with an interstitial deletion 18q and review of previously described cases suggest a clinically recognizable syndrome. The phenotype appears to result from a microdeletion of part of 18q12.2 or q12.3, or a deletion of parts of both bands.
Krasikov
N
N
Vivigen Laboratories, Santa Fe, New Mexico 87505.
Thompson
K
K
Sekhon
G S
GS
D000782:Aneuploidy; D002675:Child, Preschool; D002887:Chromosomes, Human, Pair 18; D003878:Dermatoglyphics; D002658:Developmental Disabilities / Q000235:genetics*; D005147:Facial Bones / Q000002:abnormalities; D005260:Female; D006801:Humans; D009006:Monosomy; D013577:Syndrome