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 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).
Carrasco Juan
J L
JL
Cytogenetics Service, Faculty of Medicine, University of La Laguna, Tenerife, Canary Islands, Spain.
Cigudosa
J C
JC
Otero Gómez
A
A
Acosta Almeida
M T
MT
García Miranda
J L
JL
D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics*; D002869:Chromosome Aberrations / Q000175:diagnosis; D002871:Chromosome Banding; D025063:Chromosome Disorders; D002885:Chromosomes, Human, Pair 16; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D008297:Male; D014314:Trisomy / Q000175:diagnosis*