References

Algar, E., Brickell, S., Deeble, G., Amor, D. and Smith, P. Analysis of CDKN1C in Beckwith Wiedemann syndrome. Hum Mutat 15 497-508, 2000. Baneijee, S. and Smallwood, A. A chromatin model of IGF2 H19 imprinting letter . Nat Genet 11 237-238, 1995. Bartolomei, M. S. and Tilghman, S. M. Genomic imprinting in mammals. Annu Rev Genet 31 493-525, 1997. Bartolomei, M. S., Webber, A. L., Brunkow, M. E. and Tilghman, S. M. Epigenetic mechanisms underlying the imprinting of the mouse H19 gene. Genes Dev...

The Maternal UPD14 Syndrome

After the initial case (Temple et al., 1991), a total of 19 cases have been reported with maternal UPD14 (see Chapter 4). With the publication of the third (Antonarakis et al., 1993) and fourth (Healey et al., 1994) cases of maternal UPD 14, it became clear that the recurring signs and symptoms delineated a new syndrome. Indeed, the first three cases, a male (Temple et al., 1991) and two females (Pentao et al., 1992 Antonarakis et al., 1993), reported in their 17th, 20th, and 9th years had...

Maternal UPD7 Cases in the Russel Silver Syndrome

It is worth noting that some of the above cases with maternal UPD7 have some features of the Russel-Silver syndrome (asymmetry, triangular face, pointed chin, clinodactyly) (Spence et al., 1988). Individuals with RSS show intrauterine and postnatal growth retardation plus some of the following signs prominent forehead (with late closure of anterior fontanelle), triangular face, downturned corners of the mouth, faciotruncular and limb asymmetry, 5th finger brachymesophalangy and clinodactyly,...

Beckwith Wiedemann Syndrome

The oncogenic nature of Beckwith-Wiedemann syndrome (BWS) seems to involve the dysregulation of both tumor-promoting and tumor-suppressor genes. Given the number of imprinted genes in the 11p15.5 region and the complexity of their interaction, the syndrome may originate from the combination of different alleles of the imprinted genes. The underlying molecular modifications of this richly imprinted domain, which leads to various combinations of the dysmorphic and neoplastic features...

Neonatal Transient Diabetes Mellitus

Neonatal transient diabetes mellitus (TNDM), with an incidence in newborns of 1 400,000 to 1 500,000 (Fosel, 1995 Shield et al., 1997), is characterized by intrauterine growth retardation, failure to thrive, hyperglycemia, glucosuria, dehydration, polyuria, occasional ketonemia and ketonuria, lethargy, and fever. Occasional features include anemia, macroglossia (Figure 1), and umbilical hernia. The diabetic condition may be permanent, subside to recur later as type 2 diabetes (Shield et al.,...