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Human tissues have two distinct cholinesterase activities: acetylcholinesterase and butyrylcholinesterase. Acetylcholinesterase functions in the transmission of nerve impulses, whereas the physiological function of butyryl-cholinesterase remains unknown. An atypical form of butyrylcholinesterase or the absence of its activity leads to prolonged apnea following administration of the muscle relaxant suxamethonium. Inheritance of these butyrylcholinesterase variants is consistent with the enzyme activity being encoded in a single autosomal locus, BCHE (formerly CHE1 and E1), which has been assigned to chromosome 3. Previous in situ hybridization of a BCHE cDNA probe gave evidence of homologous sequences at 3q26 and 16q11-q23, raising the possibility of more than one locus coding for butyrylcholinesterase [H. Soreq, R. Zamir, D. Zevin-Sonkin, and H. Zakut (1987) Hum. Genet. 77: 325-328]. Using a different cDNA probe hybridized in situ to 46,XX,inv(3)(p25q21) metaphase chromosomes, we report here the localization of BCHE to a single autosomal location: 3q26.

SUMMARY This paper describes 6 individuals, occurring in 3 generations of a single family, who were affected by a distinct syndrome which included: retardation and microcephaly; a small oval face with almond-shaped eyes, droopy eyelids, a small nose, and small downturned mouth; minor acral skeletal anomalies, and short stature. Craniosynostosis, heart defects, and limited elbow extension were seen less frequently. Expression was variable and parents who were in the direct vertical line of trans-

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38 genetically determined marker systems were examined in blood samples obtained from a relatively isolated population of Eskimos living in the Eastern Canadian Arctic. 2,3-DPGM, sGOT, sGPT, PGM_1; 6PGD, AcP, E₂ cholinesterase, haptoglobin, Gm, Inv, and HL-A were found to exist in polymorphic form, while no variation of the remaining 27 markers was detected in the population. The 2,3-DPGM 2–1 phenotype, which has hitherto been considered to be a rare phenotype, occurred in 3.6% of the individuals studied. One previously undescribed rare variant sGPT 5–1 was detected. Comparisons of the data for circumpolar populations indicate that the PGM²₁ allele frequencies form a gradient of increasing magnitude from west to east in Arctic populations; a suggestion of a decreasing gradient of red cell acid phosphatase P^aallele frequencies was found from west to east in these populations. Approximately 6% of the genes in the Igloolik gene pool appeared to be Caucasoid. The incidence of polymorphisms and the average degree of heterozygosity in this relatively isolated population were not found to differ statistically from the corresponding estimates for a large random mating population with little inbreeding.

SUMMARY A previously undescribed autosomal dominant syndrome has been observed in a large kindred with affected relatives spanning at least five generations. The phenotype is highly variable and appears to show complete penetrance. Affected persons have a progressively coarse, acromegaloid-like facial appearance and thickening of the lips and intraoral mucosa. The differences are discussed between this syndrome and three rather similar syndromes, pachydermoperiostosis, the Ascher syndrome, and multiple neuroma syndrome.In this paper we describe a large kindred with a previously unreported syndrome segregating in an autosomal dominant fashion. Despite similarities in facial appearance, the syndrome appears to be distinct from acromegaly, pachydermoperiostosis, and the Ascher and multiple neuroma syndromes. There is no known associated health risk. Although some affected persons were concerned about their appearance, most were unaware of any problem until the proband requested corrective surgery. At