title: Case report of de novo dup(18p)/del(18q) and r(18) mosaicism.
abstract: This is a report of a 27-year-old woman with an unusual de novo chromosomal abnormality. Mosaicism was identified in peripheral blood cells examined by standard G-bands by trypsin using Giemsa (GTG) analysis and fluorescence in situ hybridization (FISH) analysis with chromosome-18 region-specific probes, 46,XX,del(18)(pter --> q21.33:)[41], 46,XX,r(18)(::p11.21 --> q21.33::)[8], and 46,XX,der(18)(pter --> q21.33::p11.21 --> pter)[1]. On the other hand, the karyotype of periodontal ligament fibroblasts was nonmosaic, 46,XX, der(18)(pter --> q21.33::p11.21 --> pter)[50]. All cell lines appeared to be missing a portion of 18q (q21.33 --> qter). The pattern of the dup(18p)/del(18q) in the rod configuration raises the possibility of an inversion in chromosome 18 in one of the parents. However, no chromosomal anomaly was detected in either parent. The most probable explanation is that de novo rod and ring configurations arose simultaneously from an intrachromosomal exchange. The unique phenotype of this patient, which included primary hypothyroidism and primary hypogonadism, is discussed in relation to her karyotype.
authors.affiliation: Maxillofacial Orthognathics, Graduate School, Tokyo Medical and Dental University, 1-5-45, Yushima, Bunkyo-Ku, Tokyo, 113-8549, Japan.
authors.forename: Enkhtuvshin
authors.initials: E
authors.lastname: Gereltzul
authors.affiliation: Maxillofacial Orthognathics, Graduate School, Tokyo Medical and Dental University, 1-5-45, Yushima, Bunkyo-Ku, Tokyo, 113-8549, Japan. y-baba.mort@tmd.ac.jp.
authors.forename: Yoshiyuki
authors.initials: Y
authors.lastname: Baba
authors.affiliation: Maxillofacial Orthognathics, Graduate School, Tokyo Medical and Dental University, 1-5-45, Yushima, Bunkyo-Ku, Tokyo, 113-8549, Japan.
authors.forename: Naoto
authors.initials: N
authors.lastname: Suda
authors.affiliation: Maxillofacial Orthognathics, Graduate School, Tokyo Medical and Dental University, 1-5-45, Yushima, Bunkyo-Ku, Tokyo, 113-8549, Japan.
authors.forename: Momotoshi
authors.initials: M
authors.lastname: Shiga
authors.affiliation: Maxillofacial Orthognathics, Graduate School, Tokyo Medical and Dental University, 1-5-45, Yushima, Bunkyo-Ku, Tokyo, 113-8549, Japan.
authors.forename: Maristela Sayuri
authors.initials: MS
authors.lastname: Inoue
authors.affiliation: Maxillofacial Orthognathics, Graduate School, Tokyo Medical and Dental University, 1-5-45, Yushima, Bunkyo-Ku, Tokyo, 113-8549, Japan.
authors.forename: Michiko
authors.initials: M
authors.lastname: Tsuji
authors.affiliation: Maxillofacial Orthognathics, Graduate School, Tokyo Medical and Dental University, 1-5-45, Yushima, Bunkyo-Ku, Tokyo, 113-8549, Japan.
authors.forename: Insik
authors.initials: I
authors.lastname: Shin
authors.affiliation: Clinical and Molecular Endocrinology, Graduate School, Tokyo Medical and Dental University, Tokyo, Japan.
authors.forename: Yukio
authors.initials: Y
authors.lastname: Hirata
authors.affiliation: Maxillofacial Orthognathics, Graduate School, Tokyo Medical and Dental University, 1-5-45, Yushima, Bunkyo-Ku, Tokyo, 113-8549, Japan.
authors.forename: Kimie
authors.initials: K
authors.lastname: Ohyama
authors.affiliation: Maxillofacial Orthognathics, Graduate School, Tokyo Medical and Dental University, 1-5-45, Yushima, Bunkyo-Ku, Tokyo, 113-8549, Japan.
authors.forename: Keiji
authors.initials: K
authors.lastname: Moriyama
mesh_terms: D000328:Adult; D002869:Chromosome Aberrations; D002871:Chromosome Banding; D002887:Chromosomes, Human, Pair 18 / Q000235:genetics*; D005260:Female; D006801:Humans; D007006:Hypogonadism / Q000235:genetics*; D007037:Hypothyroidism / Q000235:genetics*; D017404:In Situ Hybridization, Fluorescence; D009030:Mosaicism