Nondisjunction, Genetic

La sindrome di Silver-Russel

Prada E, Scupilliti S, Selicorni A.

2024/8 — pag. 515-517 — DOI

Neonato piccolo, ipotonico, con difficoltà di alimentazione: pensiamo anche alla sindrome di Temple

Dal Bo S, Muratori C, Nardini C, Donati I, Magistà AM, Marchetti F

2021/5 — pag. 138-140 — DOI

Temple syndrome is a rare imprinting disorder mainly due to maternal uniparental disomy of the chromosome 14. It represents the main differential diagnosis of Silver-Russell and Prader-Willi syndrome. This syndrome is characterized by growth retardat...

Il punto sulla sindrome di Silver-Russell dopo il primo Consensus internazionale

G. Patti, N. Di Iorgi, F. Napoli, M. Maghnie

2018/2 — pag. 85-91

Silver-Russell syndrome (SRS) is a heterogeneous syndrome characterised by severe intrauterine and postnatal growth retardation with typical dysmorphic features. SRS is primarily a clinical diagnosis; however molecular testing enables confirmation ...

Dieci anni di pediatria: che cosa è cambiato nella genetica

G. Corsello

2006/6 — pag. 359-364

The recent developments of genetics allow a clearer diagnosis of most of the syndromes and diseases due to defects of the genetic code and of the chromosomal pattern. New techniques such as FISH (Fluorescent in Situ Hybridization) and CGH-microarrays...

Segnalazione di un caso di diabete neonatale

G. Dioguardi, G. Ricciardi, G. Micelisopo, A. Gallo, AM. D’Antonio, M. De Vivo, A. Palermo

2006/4 — pag. 257-258

Detection of diabetes during neonatal age is very infrequent. Nonetheless early diagnosis is crucial since if not promptly treated with insuline, neonatal diabetes (ND) has a critical course. We report the case of a female neonate, born with birth w...