Report of a patient with a trisomy of chromosome region 20q11.2-->20q12 and characterization with FISH.
We report on a 16-month-old boy presenting with psychomotor retardation, craniofacial anomalies and severe vision deficit. Analysis of GTG-banded chromosomes showed that the patient had extra chromosomal material in the long arm of one chromosome 20. This chromosome aberration was further characterized with FISH using a chromosome 20 specific paint and band-specific probes. A partial trisomy 20q was shown to be present, the karyotype being 46, XY, dup (20) (q11.2q12). The cytogenetic and clinical findings are compared with cases previously reported in the literature.
Wanderley
H Y C
HY
Department of Clinical Genetics, Academic Hospital Maastricht, The Netherlands.
Schrander-Stumpel
C T R M
CT
Visser
M O J M
MO
Van Maanen-Op Het Roodt
E A M
EA
Loneus
W H
WH
Engelen
J J M
JJ
D000293:Adolescent; D000328:Adult; D002648:Child; D002890:Chromosomes, Human, Pair 20 / Q000235:genetics*; D002893:Chromosomes, Human, Pair 3 / Q000235:genetics; D002898:Chromosomes, Human, Pair 8 / Q000235:genetics; D020440:Gene Duplication; D006801:Humans; D017404:In Situ Hybridization, Fluorescence / Q000379:methods*; D007223:Infant; D007621:Karyotyping; D008297:Male; D008875:Middle Aged; D011596:Psychomotor Disorders / Q000235:genetics; D014314:Trisomy / Q000235:genetics*