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A liveborn infant with the complement 46,XX/47,XX, + 14 shared certain features in common with the following previously reported cases: (1) the one previously reported possible case of trisomy 14, (2) cases in which individuals had at least some portion of chromosome No. 14 in triplicate, and (3) cases of atypical D trisomy (Snodgrass category II). The common features include developmental retardation, wide flat nose with bulbous or wide tip, large mouth with turned down corners (some with protruding lips), short neck (some with redundant skin folds), low-set ears, retrognathia, digital anomalies (usually contractions and deviations), palatal anomalies, and cryptorchidism.

A twin pregnancy is described in which discordancy for Down's syndrome was diagnosed prenatally by karyotyping amniotic fluid cultures from each of the 2 sacs. The advantages of ultrasonography prior to genetic amniocentesis are discussed from this perspective. The observation that parents may deal in various ways with the reality of this prenatal dilemma demands an open-minded approach from obstetricians and genetic counselors.