Clinical phenotype and molecular characterization of 6q terminal deletion syndrome: Five new cases

American Journal of Medical Genetics, Part A

Volumn 140, Issue 18, 2006, Pages 1944-1949

  Striano, Pasquale ^a   Malacarne, Michela ^b   Cavani, Simona ^b   Pierluigi, Mauro ^b   Rinaldi, Rosanna ^c   Cavaliere, Maria Luigia ^d   Rinaldi, Maria Michela ^d   De Bernardo, Carmelilia ^c   Coppola, Aatonietta ^e   Pintaudi, Maria ^a   Gaggero, Roberto ^a   Grammatico, Paola ^c   Striano, Salvatore ^e   Dallapiccola, Bruno ^f   Zara, Federico ^a   Faravelli, Francesca ^b  

^a UNIVERSITY OF GENOA   (Italy)

^b GALLIERA HOSPITAL   (Italy)

^c SAPIENZA UNIVERSITY OF ROME   (Italy)

^d CARDARELLI HOSPITAL   (Italy)

^e UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^f CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

Author keywords

6q subtelomeric; Epilepsy; FISH; Mental retardation; Subtelomeric deletions

Indexed keywords

ADULT; ARTICLE; BRAIN MALFORMATION; CHROMOSOME 6Q; CHROMOSOME ABERRATION; CHROMOSOME DELETION; CLINICAL ARTICLE; CLINICAL FEATURE; ELECTROENCEPHALOGRAM; EPILEPSY; FACE DYSMORPHIA; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; FOCAL EPILEPSY; HUMAN; MALE; MENTAL DEFICIENCY; NEUROIMAGING; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SEIZURE;

ADULT; BRAIN; CHROMOSOME ABERRATIONS; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 6; ELECTROENCEPHALOGRAPHY; EPILEPSIES, PARTIAL; FACIES; FEMALE; HUMANS; INFANT; MALE; MENTAL RETARDATION; PHENOTYPE;

EID: 33748621492     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31435     Document Type: Article

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