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.,...

Case 5

This was the report of a further patient with TNDM and paternal UPD6 (Whiteford et al., 1997). The term-born infant was growth-retarded, with weight, length, and occipitofrontal circumference below the 3rd centile. Insulin infusion was started on the first day, after hyperglycemia and hyperglucosuria were noted subcutaneous injections were given after 2 weeks, insulin requirements decreasing by 6 weeks and discontinued at 8 weeks of age. Imaging, by ultrasound and computerized tomography, twice...

Chapter

Adrenocortical cytomegaly, neonatal hypoglycemia, and predisposition to several childhood embryonal malignancies such as Wilms' tumor (nephroblastoma), adrenocortical carcinoma, hepatoblastoma, rhabdomyosarcoma, pancreatic tumor, and neuroblastoma. The omphalocele varies in size and may be replaced by a simple hernia it exists in a majority of the cases and may be complicated by liver, bowel, and diaphragmatic malformations. Macroglossia, evident from birth, is variable, from moderate to...

References

J., Andrien, M., Dupont, E., et al. Isodisomy of chromosome 6 in a newborn with methylmalonic acidemia and agenesis of pancreatic beta cells causing diabetes mellitus. J Clin Invest 94 418-421, 1994. Abu-Amero, S. N., Ali, Z., Abu-Amero, K. K., Stanier, P. and Moore, G. E. An analysis of common isodisomic regions in five mUPD 16 probands. J Med Genet 36 204-207, 1999. Anderlid, B. M., Bjorck, E. J. and Blennow, E. Maternal isodisomy of chromosome 9 with no impact on the phenotype...

How To Prevent Naturally 9qh

Mitotic Recombination & Segregation Figure 7 Schematic representation of mitotic recombination and the resulting outcomes including a partial UPD for maternal or paternal alleles. Retinoblastoma (Cavenee, 1991). In the case of such a mitotic recombinational event, just as happens at normal meiosis, segments are symmetrically traded between one maternal and one paternal chromatid. Thus, the pair involved now includes a paternal segment on a maternal chromatid and vice-versa these segments...

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,...

Case 4

The proband was one of the two above referred patients with TNDM and showed UPD for chromosome 6 (the other patient had a biparental inheritance of chromosome 6). The proband weighed 1.7 kg at term (below 3rd centile), immediately developed hyperglycemia with dehydration, had undetectable insulin levels, but recovered from diabetes by 6 months, and showed normal growth and intelligence at 13 years of age (Temple et al., 1995). The uniparental paternal pair 6 of the child was isodisomic and or...

Imprinting Mutations And Smallest Region Of Overlap Pwssro In Pat 15 Deletions

A minority of PWS patients lt 5 probably have mutations that affect the mechanisms involved in the resetting of the parental imprint during gametogenesis. These patients do not have either large deletions in the paternally derived PWS AS region, or maternal UPD15. Such patients, however, show a PWS pattern of methylation of 15q11-q13 loci after hybridization with specific probes maternal only type imprint . Some of the patients have been found to have small deletions that span the so-called...