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Partial Trisomy 18q
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]

Prenatal diagnosis and molecular cytogenetic characterization of a derivative chromosome der(18;18)(q10;q10)del(18)(q11.1q12.1)del(18)(q22.1q22.3) presenting as apparent isochromosome 18q in a fetus with holoprosencephaly. [revgenetica.sld.cu]

Prognosis

Other types of partial trisomy 18 are non-typical with reference to the craniofacial anomalies and findings in the papillary system; on the whole, the clinical pattern is weaker, and prognosis is more favourable. [thieme-connect.de]

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