| Summary points: | A proband aged 15 months born to a 21-year-old mother and 22-year-old father at 38 weeks' gestation with birth weight at the 3rd percentile and length at the 50th percentile presents for genetic evaluation of microcephaly and developmental delay. Brain magnetic resonance imaging, physical examination, karyotype analysis at the 550-band level, metabolic workup, renal studies, echocardiogram, microarray results, high-resolution oligonucleotide microarray, and fluorescence in situ hybridisation analysis are described. The authors discuss how the deletion of EPHA7 plays a role in the neurological and dysmorphic features, including developmental delay, hypotonia, and ear malformations, observed in some patients with 6q deletion. |
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Microdeletion of 6q16.1 Encompassing EPHA7 in a Child with Mild Neurological Abnormalities and Dysmorphic Features: A Case Report
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