De novo trisomy 16p
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 f...
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Published in | American journal of medical genetics Vol. 68; no. 2; p. 219 |
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Main Authors | , , , , |
Format | Journal Article |
Language | English |
Published |
United States
20.01.1997
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Subjects | |
Online Access | Get more information |
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Summary: | 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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ISSN: | 0148-7299 |
DOI: | 10.1002/(SICI)1096-8628(19970120)68:2<219::AID-AJMG19>3.0.CO;2-X |