Duplication of chromosome region (16)(p11.2 --> p12.1) in a mother and daughter with mild mental retardation.
We report a 40-year-old female with mild mental retardation and behavior problems and her 6-year-old daughter. Chromosome analysis showed that both patients had a proximal duplication in the short arm of chromosome 16. The aberration was characterized further with band-specific probes, resulting in a 46,XX,dir dup(16)(pter --> p11.2::p12.1 --> qter) karyotype. The clinical and cytogenetical findings are compared to other patients with partial trisomy 16p reported in the literature.
Engelen
J J M
JJ
Research Institute Growth and Development, Department of Clinical Genetics, University Maastricht, The Netherlands. john.engelen@gen.unimaas.nl
de Die-Smulders
C E M
CE
Dirckx
R
R
Verhoeven
W M A
WM
Tuinier
S
S
Curfs
L M G
LM
Hamers
A J H
AJ
D000328:Adult; D002648:Child; D002869:Chromosome Aberrations; D002885:Chromosomes, Human, Pair 16 / Q000235:genetics*; D005192:Family Health; D005260:Female; D020440:Gene Duplication; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008607:Intellectual Disability / Q000235:genetics / Q000473:pathology*; D007621:Karyotyping; D014314:Trisomy