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10.1002/ajmg.1320090305.abs A six‐week‐old female infant with multiple congenital anomalies including a hypoplastic left‐heart malformation was found to have duplication of 12p. Only two of 17 previously reported cases of dup (12p) had congenital heart disease, and both had hypoplastic...
10.1002/ajmg.1320090311.abs We describe two sisters with distal, slowly progressive muscular weakness and hypotrophy since childhood, autonomic dysfunction characterized by profuse sweating, distal cyanosis related to cold weather, orthostatic hypotension, and esophageal achalasia. Nerve...
10.1002/ajmg.1320090308.abs The properties of the recurrence risk functions for Mendelian models involving two loci with epistatic interaction are examined. The two loci, H (hypostatic) and E (epistatic), are arbitrarily linked and diallelic. The general parameters are the genotypic frequencies...
10.1002/ajmg.1320090307.abs We analyzed the sexual habits of 80 mothers of normal children and of 33 mothers of children with the Down syndrome (DS). The data were obtained through the psychological interview technique. Unusually long intervals between intercourse at the time of conception were...
10.1002/ajmg.1320090306.abs Amniotic fluid alpha‐fetoprotein (AF‐AFP) determinations were performed on 1,215 women who were at low risk for fetal neural tube defects and who were undergoing mild‐trimester amniocentesis for cytogenetic indications, primarily age‐related aneuploidy....
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