SGA children: auxological and metabolic outcomes - the role of GH treatment.

The definition Small for Gestational Age (SGA) describes those newborns weighing and/or measuring in length <-2 SD than expected for their gestational age. These subjects are at higher risk of short stature, neonatal complications, alterations of glucose, lipid metabolism, body composition, bone metabolism and puberty, neurocognitive vulnerabilities and alterations of the GH-IGF-I axis. With regards to growth, in 85-90% of the cases children born SGA experience a period of catch up growth that allows them to achieve an adult stature within normal range. In a 10-15% of the cases, the catch up growth period does not take place and this entails short stature in adulthood. In the latter group, GH treatment may be considered to achieve adult height in the range of genetical target stature. With reference to glucose and lipid metabolism, young adults born SGA and particularly those with early catch up growth are at higher risk of developing insulin resistance, type 2 diabetes mellitus, arterial hypertension, dyslipidemia, overweight, obesity and metabolic syndrome. Subjects born SGA are in need of a correct diagnostic and eventually therapeutic approach.

Molecular cytogenetic characterization of an interstitial deletion of chromosome 21 (21q22.13q22.3) in a patient with dysmorphic features, intellectual disability and severe generalized epilepsy.

We report on a de novo interstitial deletion of chromosome 21q in a patient presenting with characteristic facial features, intellectual disability, and epilepsy. The deletion extent was about 4.9 Mb from position 37713441 bp (21q22.13) to position 42665162 bp (21q22.3) (NCBI36/hg18 map). Patients with partial monosomy 21 are quite rare; this anomaly has been associated with a wide spectrum of clinical signs, ranging from very mild to quite severe phenotypes. This variability results from variability in the deleted regions, thus accurate molecular definition of the chromosomal breakpoints is necessary to make better genotype-phenotype correlations. We compared our patient's phenotype with the few other patients reported in the literature and found to have similar deletion when analyzed by array CGH. The minimal overlapping region contains only two genes, DYRK1A and KCNJ6, which may play a major role in these patients' phenotype.