Premium
Partial deletion of 18p and partial duplication of 18q caused by a paternal pericentric inversion
Author(s) -
Israëls Trijn,
Hoovers Jan,
Turpijn Hanne M.,
Wijburg Frits A.,
Hennekam Raoul C. M.
Publication year - 1996
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1996.tb02726.x
Subject(s) - chromosome 18 , chromosomal inversion , dup , biology , genetics , chromosome , gene duplication , karyotype , gene
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.