HIGHLIGHTS
- who: Yousif Khalifa from the (UNIVERSITY) have published the research: Molecular cytogenetic and phenotypic characterization of Phelan McDermid and 22q13 duplication syndrome: a case report, in the Journal: (JOURNAL)
- what: The authors report another such case, which was not suspected to be PHMDS, before a r(22) was observed in banding cytogenetics.
SUMMARY
Ring chromosome 22/r(22) syndrome is a rare chromosomal aberration with a prevalence of 1/1,000,000 and usually a de novo event; however, there are some familial cases reported. Seizures of different types including febrile . . .
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