Simultaneous de novo interstitial deletion of 16q21 and intercalary duplication of 19q in a retarded infant with minor dysmorphic features

U Trautmann; R A Pfeiffer; U Seufert-Satomi; H U Tietze

doi:10.1136/jmg.30.4.330

Simultaneous de novo interstitial deletion of 16q21 and intercalary duplication of 19q in a retarded infant with minor dysmorphic features

J Med Genet. 1993 Apr;30(4):330-1. doi: 10.1136/jmg.30.4.330.

Authors

U Trautmann¹, R A Pfeiffer, U Seufert-Satomi, H U Tietze

Affiliation

¹ Institut für Humangenetik, Friedrich-Alexander Universität Erlangen-Nürnberg, Germany.

Abstract

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.

Publication types

Case Reports

MeSH terms

Abnormalities, Multiple / genetics*
Chromosome Aberrations*
Chromosome Banding
Chromosome Deletion*
Chromosomes, Human, Pair 16*
Chromosomes, Human, Pair 19*
Female
Humans
Infant
Intellectual Disability / genetics*