Two cases of macrocephaly and immune deficiency
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Updated: Jul 16, 2026

Lineage Tracing and Clonal Analysis in Developing Cerebral Cortex Using Mosaic Analysis with Double Markers (MADM)
Published on: May 8, 2020
Ozgur Cogulu1, Ayca Aykut, Necil Kutukculer
1Departments of Pediatrics Medical Genetics, Faculty of Medicine, Ege University, Izmir, Turkey.
Abstract:
Macrocephaly describes a head circumference greater than two standard deviations above the mean and is a feature of a number of genetic syndromes. Here we report on two patients with microcephaly, immune deficiency and anemia. In addition, one case had periventricular leukomalacia and the other case had myelinisation delay in periventricular white matter development. These cases may represent a distinct new syndrome.
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