Article
Prenatal diagnosis of a fetus with terminal deletion of chromosome 1 (q43) in first-trimester screening: is there a characteristic antenatal 1q deletion phenotype? A case report and review of the literature.
Fetal diagnosis and therapy - 1 Jan 2011
Wagner N, Guengoer E, Mau-Holzmann U A, Maden Z, Hoopmann M, Abele H, Kagan K O
Abstract excerpt
The terminal deletion of chromosome 1q is a disease of rare incidence. It might be hereditary or caused by spontaneous changes within the chromosome. Phenotypic characteristics including typical facial appearance, microcephaly, psychomotor retardation and variable other anomalies are suggested to...
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