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).

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…

PATTERNS ELETTROGASTROGRAFICI IN NATI PRETERMINE DA GRAVIDANZA SINGOL,A E MULTIPLA. Dati Preliminari

Scopo dello studio è una valutazione della funzionalità motoria gastrica in due popolazioni di neonati pre-termine, confrontati a un gruppo di nati a termine.

Hypercalciuria and kidney calcifications in terminal 4q deletion syndrome: further evidence for a putative gene on 4q.

We report a newborn girl with a de novo terminal 4q deletion (q31.3 --> qter) and a characteristic phenotype of minor facial anomalies, cleft palate, congenital heart defect, abnormalities of hands and feet, and postnatal onset of growth deficiency. Laboratory studies showed excessive urinary calcium excretion on standard milk formula and on oral calcium load. Blood measurements of parathyroid hormone, calcitonin, bicarbonate, calcium, phosphorus, magnesium, sodium, chlorine, potassium, and urinary measurements of phosphorus, magnesium, sodium, chlorine, potassium were normal for age. At 2 months of life, ultrasonography showed kidney calcifications. Clinical and laboratory data support the…

Six patients with Pro250Arg mutation in FGFR3 in a family with coronal craniosynostosis: Intrafamilial variability and clinical management

WIDENING THE SCOPE OF THE 15q13.3 MICRODUPLICATION SYNDROME. PATIENT REPORT AND GENOTYPE-PHENOTYPE CORRELATION.

15q13.3 microduplication syndrome, genomic rearrangment, gentotype-phenotype correlation

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

La Genomica in Sanità Pubblica.
Sintesi delle evidenze e delle conoscenze disponibili sull’utilizzo della genomica ai fini della prevenzione.

Congenital diaphragmatic hernia and esophageal atresia: The importance of respiratory follow-up in congenital thoracic malformations

Esophageal atresia, congenital diaphragmatic hernia, pulmonary function test, respiratory morbidity, Long-term follow-up

Array CGH identifies a 823 kb Microduplication at 22q 11.22 encompassing the Rab36 gene in a Child with Autism Spectrum Disorder and Mild Dysmorphism

aCGH, microduplication, autism

DELEZIONE CROMOSOMICA CRIPTICA 1p31.1: EFFICACIA DELLA TERAPIA COMBINATA CON L-TIROXINA, GH ED LHRHa PER MIGLIORARE LA PROGNOSI STATURALE

Le anomalie cromosomiche criptiche, non evidenziabili con la citogenetica tradizionale sono associate a un quadro clinico suggestivo di anomalia, pur in presenza di cariotipo normale, che richiede tecniche diagnostiche come l’ibridazione in situ. Descriviamo il caso di una ragazza che ha raggiunto la statura definitiva, con quadro polimalformativo già alla nascita e riscontro di cariotipo 46, XX con inversione pericentrica di un cromosoma 1. L’ indagine FISH del cromosoma 1 mette in evidenza i seguenti punti di rottura: 1p32 e 1q25. Si pone diagnosi di sindrome da delezione cromosomica criptica (del 1p31.1). Si tratta di una sindrome polimalformativa caratterizzata da ritardo dello sviluppo…

PORCN mutations in focal dermal hypoplasia: coping with lethality.

Contains fulltext : 81709.pdf (Publisher’s version ) (Closed access) The X-linked dominant trait focal dermal hypoplasia (FDH, Goltz syndrome) is a developmental defect with focal distribution of affected tissues due to a block of Wnt signal transmission from cells carrying a detrimental PORCN mutation on an active X-chromosome. Molecular characterization of 24 unrelated patients from different ethnic backgrounds revealed 23 different mutations of the PORCN gene in Xp11.23. Three were microdeletions eliminating PORCN and encompassing neighboring genes such as EBP, the gene associated with Conradi-Hunermann-Happle syndrome (CDPX2). 12/24 patients carried nonsense mutations resulting in loss …