Partial deletion of 18p and partial duplication of 18q caused by a paternal pericentric inversion.
Here we report on a boy with both a partial deletion of chromosome 18p and a partial duplication of chromosome 18q, caused by a paternal pericentric inversion (46,XY,rec(18),dup q,inv(18)(p11.2q21.1)pat). The findings in the patient are compared to those in the literature. The symptoms in the described patient can be explained for the major part by the 18p- and 18q+ syndromes separately. A specific 18p-/18q+ syndrome cannot be clearly delineated yet. Inspiratory stridor is a symptom that has not been described before in either 18p- or 18q+, but has been found twice before in patients with the combined 18p-/18q+ syndrome.
Israëls
T
T
University of Amsterdam, Department of Pediatrics, Amsterdamic, The Netherlands.
Hoovers
J
J
Turpijn
H M
HM
Wijburg
F A
FA
Hennekam
R C
RC
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D002869:Chromosome Aberrations / Q000235:genetics* / Q000473:pathology; D002872:Chromosome Deletion; D025063:Chromosome Disorders; D007446:Chromosome Inversion; D002887:Chromosomes, Human, Pair 18 / Q000648:ultrastructure*; D005145:Face / Q000002:abnormalities; D006330:Heart Defects, Congenital / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D007830:Larynx / Q000002:abnormalities; D008297:Male; D009305:Nasopharynx / Q000002:abnormalities; D010641:Phenotype; D012135:Respiratory Sounds / Q000235:genetics*