Dysmorphic face, precociously senile appearance, microcephaly, growth retardation and neuropsychomotor delay

Cockayne's syndrome is a rare recessive autosomal disorder. Its frequency at birth is very low. In the classical form (type 1) the clinical appearance becomes evident by the second year of life. Itis characterized by severe growth delay, microcephaly, progressive loss of adipose tissue, senile appearance, dysmorphic facial features, ocular anomalies (retinal pigmentary degeneration, nistagmus, cataract, optic atrophy).

Ipotiroidismo e sindrome di Down: valutazione su 328 soggetti in età evolutiva

Pseudoacondroplasia: descrizione di un caso con piena espressività clinica

Sindrome di Turner in mosaico in madre e figlia con anomalie del cariotipo apparentemente non correlate.

IL DOLORE IN PATOLOGIA PEDIATRICA Dati preliminari di un’indagine conoscitiva

Partial trisomy 9p and partial monosomy 6q resulting from paternal reciprocal translocation 6;9: Overlapping manifestations of characteristic phenotypes from birth to age 4 years

We report on a female infant with partial trisomy 9p (p13.3→pter) and monosomy 6q (q26-qter) resulting from a paternal balanced reciprocal traslocation t(6;9)(q26;p13.3). Both trisomy 9p and monosomy 6q are recognized phenotypes with characteristic patterns of anomalies. This patient is the first reported with a partial deletion 6q and a partial duplication 9p resulting in an overlapping phenotype including intrauterine growth retardation (IUGR), craniofacial and skeletal abnormalities, congenital heart defect, hypotonia and developmental delay. We present the clinical follow-up of this patient from birth to age 4 years: the phenotypic manifestations of trisomy 9p syndrome are mildly expres…

Idrocefalia X-Linked: identificazione di una nuova mutazione del gene L1CAM in un feto

Mielodisplasia transitoria in un neonato con sindrome di Down

Patologia cromosomica complessa: mosaicismo a tre linee cellulari [(45,X/46,X,der (X)/46,X,der(X),t(X;12)] de novo in una paziente con note dismorfiche

Copy number variations in the etiology of autism spectrum disorders

Autism Spectrum Disorders (ASDs) are a heterogeneous group of neurodevelopmental disorders, characterized by qualitative impairment in social interaction and communication and restricted, repetitive and stereotyped patterns of behavior, interests and activities. They have a multifactorial etiology, but today different studies are showing the central role of genetics. Different genetic alterations were detected: chromosomal abnormalities, mutations, trinucleotide repeats and copy number variations (CNVs). Several studies identified many CNVs associated with ASDs and possible candidate genes, whose loss or gain could have a key role in the etiopathogenesis of these disorders. In particular, t…

Due casi di sclerosi tuberosa (o malattia di Bourneville) da mutazione del gene TSC2.

Trisomia parziale prossimale 1q in diagnosi prenatale

Sindrome di Sotos: descrizione di un caso da ampia delezione del gene NSD1

Sindrome del 13q intervento comportamentale e relazionale

Duplicazione della regione critica per la sindrome di Down in un feto con cardiopatia

Obesità nella sindrome di Down: analisi di 320 soggetti in età evolutiva

16P11.2 microdeletion/microduplication syndrome: Further characterization of a critical region for neuropsychiatric development

La sindrome di Silver Russell: un caso da disomia uniparentale del cromosoma 7

Valutazione delle Immunoglobuline sieriche in 173 soggetti Down in età evolutiva

Type and counter-type from specific chromosomal regions

Several studies have shown the importance of segmental deletions/duplications in the field of chromosome pathologies. Non allelic homologous recombination, NAHR, between chromosomes or sister chromatids, mediated by segmental duplications, is the foundation of frequent mechanisms for structural chromosome mutations such as micro-deletions, micro-duplications, translocations, inversions, and marker chromosomes. We analyzed three distinct genomic regions (22q11.2, 17p11.2, 16p11.2) and we discussed how the same chromosome region can be affected by deletion or by reciprocal duplication, respectively responsible for a syndrome or for a reciprocal counter-syndrome, with different phenotypic mani…

Copy number variations in the etiology of epilepsy

Epilepsy is one of the most common neurological disorders in humans with a prevalence of 1% and a lifetime incidence of 3%. Idiopathic epilepsies occur in the absence of identifiable causal factors, but recent evidences show the role of genetic factors in the developing of these disorders. In particular, several studies focused their attention on the role of copy number variations (CNVs) in the etiology of epilepsy. In recent years, many CNVs have been identified, like 15q11.2, 15q13.3 and 16p13.11 microdeletions, 22q11.2 microduplication and many others. Possible candidate genes included in these regions were also studied and they seem to be involved in neuronal transmission and ion transp…

Sindrome 13 q: intervento comportamentale e relazionale