Partial Duplication 18q
Presentation
The aim of this report is to present a series of five cases of mosaic T18 with emphasis on clinical aspects in order to guide an interdisciplinary adequate medical care and provide timely genetic counseling. Sociedad Argentina de Pediatría. [ncbi.nlm.nih.gov]
Cardiovascular
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Heart Disease
It is characterized by intrauterine growth restriction, psychomotor and mental retardation, characteristic craniofacial findings, congenital heart disease, hypoplastic pelvis, clenched hand and rocker-bottom foot, among others. [ncbi.nlm.nih.gov]
Musculoskeletal
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Long Arm
The female infant had a partial trisomy of the long arm of chromosome 18 associated with a partial monosomy of distal 4q. [analesdepediatria.org]