De novo trisomy 16p

Am J Med Genet. 1997 Jan 20;68(2):219-21. doi: 10.1002/(sici)1096-8628(19970120)68:2<219::aid-ajmg19>;2-a.


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).

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / diagnosis*
  • Abnormalities, Multiple / genetics*
  • Chromosome Aberrations / diagnosis
  • Chromosome Banding
  • Chromosome Disorders
  • Chromosomes, Human, Pair 16
  • Humans
  • In Situ Hybridization, Fluorescence
  • Infant
  • Male
  • Trisomy / diagnosis*