RING CHROMOSOME 14 MOSAICISM: AN UNUSUAL CASE ASSOCIATED WITH DEVELOPMENTAL DELAY AND EPILEPSY, CHARACTERIZED BY GENOME ARRAY-CGH (Articolo in rivista)

Type
Label
  • RING CHROMOSOME 14 MOSAICISM: AN UNUSUAL CASE ASSOCIATED WITH DEVELOPMENTAL DELAY AND EPILEPSY, CHARACTERIZED BY GENOME ARRAY-CGH (Articolo in rivista) (literal)
Anno
  • 2010-01-01T00:00:00+01:00 (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#doi
  • 10.1002/ajmg.a.33167 (literal)
Alternative label
  • A. NUCARO; M. FALCHI; T. PISANO; R. ROSSINO; F. BOSCARELLI; G. STOICO; A. MILIA; C. MONTALDO; C. CIANCHETTI; D. PRUNA. (2010)
    RING CHROMOSOME 14 MOSAICISM: AN UNUSUAL CASE ASSOCIATED WITH DEVELOPMENTAL DELAY AND EPILEPSY, CHARACTERIZED BY GENOME ARRAY-CGH
    in American journal of medical genetics. Part A (Online)
    (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori
  • A. NUCARO; M. FALCHI; T. PISANO; R. ROSSINO; F. BOSCARELLI; G. STOICO; A. MILIA; C. MONTALDO; C. CIANCHETTI; D. PRUNA. (literal)
Pagina inizio
  • 234 (literal)
Pagina fine
  • 236 (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroVolume
  • 152A (literal)
Rivista
Note
  • ISI Web of Science (WOS) (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#affiliazioni
  • Universit√† di Cagliari (literal)
Titolo
  • RING CHROMOSOME 14 MOSAICISM: AN UNUSUAL CASE ASSOCIATED WITH DEVELOPMENTAL DELAY AND EPILEPSY, CHARACTERIZED BY GENOME ARRAY-CGH (literal)
Abstract
  • We report here on a patient with a ring 14 abnormality showing multiple deletions at Array-CGH analysis. The propositus is the first child of healthy unrelated parents and he has a healthy younger brother. At birth his weight was 2.8 kg, length 49 cm. No perinatal problems have been reported. At the age of 6 months he presented a cluster of febrile seizures, characterized by eye deviation to the right followed by generalized tonic-clonic phase. Some of the seizures were prolonged, lasting over 30 min, and were controlled with phenobarbital. He showed a mild hypotonia and developmental delay (developmental quotient at 12 months: 0.84). MRI scan was normal. EEG disclosed frontal and generalized high amplitude spike and waves. Seizures recurred in the first 2 years of life and were controlled with valproic acid. Physical examination revealed microcephaly, hypertelorism, microretrognathia, micropenis, small palpebral fissures, epicanthus, short philtrum, high arched palate, short neck, clinodactily, clumsiness. (literal)
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