Πλοήγηση ανά Θέμα "chromosome duplication"
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7q Deletion/12q Duplication Is the Possible Cause of an Alobar Holoprosencephaly Case
(2017)Holoprosencephaly (HPE) spectrum disorder is the most common congenital malformation of the human brain with absence of or incomplete midline cleavage. Its cause is heterogenic, making genetic counseling a challenge. In ... -
Complex distal 10q rearrangement in a girl with mild intellectual disability: Follow up of the patient and review of the literature of non-acrocentric satellited chromosomes
(2011)We report on an intellectually disabled girl with a de novo satellited chromosome 10 (10qs) and performed a review of the literature of the non-acrocentric satellited chromosomes (NASC). Satellites and stalks normally occur ...