We report a patient with mild pachygyria, ascertained during a screening of subjects with abnormal neuronal migration and/or epilepsy, having a 7q11.23 duplication reciprocal to the Williams-Beuren critical region (WBCR) deletion. He exhibited speech delay and mental retardation together to type II trigonocephaly and other abnormalities. The proband's mother carried the same imbalance, though her phenotype was milder and no abnormal conformation of the cranium was reported.
Dysmorphic features, simplified gryal pattern and 7q11.23 duplication reciprocal to the Williams-Beuren deletion / Torniero C; Dalla Bernardina B; Novara F; Cerini R; Bonaglia C; Pramparo T; Ciccone R; Guerrini R; Zuffardi O. - In: EUROPEAN JOURNAL OF HUMAN GENETICS. - ISSN 1018-4813. - STAMPA. - 16:(2008), pp. 880-887. [10.1038/ejhg.2008.42]
Dysmorphic features, simplified gryal pattern and 7q11.23 duplication reciprocal to the Williams-Beuren deletion
GUERRINI, RENZO;
2008
Abstract
We report a patient with mild pachygyria, ascertained during a screening of subjects with abnormal neuronal migration and/or epilepsy, having a 7q11.23 duplication reciprocal to the Williams-Beuren critical region (WBCR) deletion. He exhibited speech delay and mental retardation together to type II trigonocephaly and other abnormalities. The proband's mother carried the same imbalance, though her phenotype was milder and no abnormal conformation of the cranium was reported.
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