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De novo trisomy 16p

✍ Scribed by Juan, J.L. Carrasco; Cigudosa, J. C.; Gómez, A. Otero; Almeida, M.T. Acosta; Miranda, J.L. García

Publisher
John Wiley and Sons
Year
1997
Tongue
English
Weight
208 KB
Volume
68
Category
Article
ISSN
0148-7299

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✦ Synopsis

We report on a patient with psychomotor retardation and a pattern of malformations comprising single umbilical artery, craniofacial anomalies, severe truncal hypotonia, and lower-limb hyporreflexia. G-banding cytogenetics demonstrated a 16p؉ chromosome. Parental chromosomes were normal. The use of fluorescent in situ hybridization (FISH) showed that this extra material derived from chromosome 16. High-resolution G-banding demonstrated a duplicated segment on the 16p arm, confirming our suspicion of a de novo tandem duplication; hence, the cytogenetic diagnosis was given as 46,XY,dir dup(16)(p11.2→p12).

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