Case report of de novo dup(18p)/del(18q) and r(18) mosaicism |
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Authors: | Enkhtuvshin Gereltzul Yoshiyuki Baba Naoto Suda Momotoshi Shiga Maristela Sayuri Inoue Michiko Tsuji Insik Shin Yukio Hirata Kimie Ohyama Keiji Moriyama |
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Institution: | (1) Maxillofacial Orthognathics, Graduate School, Tokyo Medical and Dental University, 1-5-45, Yushima, Bunkyo-Ku, Tokyo 113-8549, Japan;(2) Clinical and Molecular Endocrinology, Graduate School, Tokyo Medical and Dental University, Tokyo, Japan |
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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. |
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Keywords: | Deletion 18q Ring chromosome 18 Rod/ring mosaicism Hypothyroidism Hypogonadism |
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