Simultaneous de novo interstitial deletion of 16q21 and intercalary duplication of 19q in a retarded infant with minor dysmorphic features.
We report on a retarded infant with minor dysmorphic features in whom deletion 16 and duplication 19q were discovered. The karyotype is 46,XX,del(16) (q13.08-21.05),dup(19)(q13.13-13.2). The origin and significance of the aberrant chromosomes are unknown.
Trautmann
U
U
Institut für Humangenetik, Friedrich-Alexander Universität Erlangen-Nürnberg, Germany.
Pfeiffer
R A
RA
Seufert-Satomi
U
U
Tietze
H U
HU
D000015:Abnormalities, Multiple / Q000235:genetics*; D002869:Chromosome Aberrations; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002885:Chromosomes, Human, Pair 16; D002888:Chromosomes, Human, Pair 19; D005260:Female; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics*