Download Advances in Human Genetics 14 by André Boué, Joëlle Boué, Alfred Gropp (auth.), Harry Harris, PDF

By André Boué, Joëlle Boué, Alfred Gropp (auth.), Harry Harris, Kurt Hirschhorn (eds.)

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12). , 1982) it is worthwhile to emphasize the role played by the persistence of a common AV-canal and other cardiovascular disorders (VSD and DORV). Also, the eyelid, which normally closes at day 16-17, is mostly open in trisomy 16 (Fig. 11). In addition, this anomaly is often found associated with degeneration of the ocular lens. On the other hand, persistence of the common AV-canal is a very characteristic finding in Down syndrome, as are lid and lenticular (cataract) anomalies in this syndrome.

In trisomies that lead to late abortions and perinatal deaths, trisomies 13, 18, and 21, the phenotypic characteristics had the main features of the same trisomies found in living subjects (Stephens and Shepard, 1980). For instance, the typical finger deformity of the Edwards syndrome is constant in all fetuses with trisomy 18 and eventually allows a diagnosis at ultrasound examination (J. , 1982). Hook (1983) studied the rate of spontaneous fetal deaths in trisomies 13, 18, and 21 that were diagnosed prenatally and whose mothers had declined selective abortion (Table XIII); a significant proportion ofthese trisomies led to intrauterine mortality.

The occurrence of holoprosencephaly and cyclopia with very similar features in the more severe forms of murine trisomy 1 (Fig. lac) and human trisomy 13 seems to reflect the fact that mammalian embryology follows similar morphogenetic patterns in mouse and man. A more specific relationship has been claimed to exist between trisomy 16 of the mouse (Fig. 11) and trisomy 21 (Down syndrome) in man Fig. II. Trisomy 16 on day 18 offetal development compared with normallittermate. Note abnormally open eyelid in trisomy 16.

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