Trisomy 14pter→q21: a case with associated ovarian germ cell tumor and review of the literature

Lee-Jones, L ORCID: https://orcid.org/0000-0003-1255-3545, Williams, T, Little, E and Sampson, J (2004) Trisomy 14pter→q21: a case with associated ovarian germ cell tumor and review of the literature. American Journal of Medical Genetics Part A, 128A (1). pp. 78-84. ISSN 0148-7299

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Abstract

We report a patient with trisomy X and a supernumerary marker chromosome. The marker chromosome was characterized by comparative genomic hybridization and shown to be derived from chromosome 14, resulting in trisomy for 14pter→q21. The karyotype was thus redefined as 48,XXX,+mar.rev ish enh(14pterq21). The patient presented with facial dysmorphism and a high-pitched cry, exhibited severe developmental delay, and developed an aggressive ovarian immature teratoma. In this paper, we also review reports of 11 other patients with constitutional trisomy of the same chromosomal region. Previous studies have identified somatic gains of chromosome 14 in ovarian germ cell tumors. We propose that the constitutional gain of chromosomal 14 material may have predisposed to the development of this tumor. © 2004 Wiley-Liss, Inc.

Item Type:	Article
Peer-reviewed:	Yes
Date Deposited:	25 Jul 2022 10:04
Publisher:	Wiley
Additional Information:	This is the peer reviewed version of the following article: Lee-Jones, L., Williams, T., Little, E. and Sampson, J. (2004), Trisomy 14pter → q21: A case with associated ovarian germ cell tumor and review of the literature. Am. J. Med. Genet., 128A: 78-84., which has been published in final form at https://doi.org/10.1002/ajmg.a.30076. This article may be used for non-commercial purposes in accordance with Wiley Terms and Conditions for Use of Self-Archived Versions. This article may not be enhanced, enriched or otherwise transformed into a derivative work, without express permission from Wiley or by statutory rights under applicable legislation. Copyright notices must not be removed, obscured or modified. The article must be linked to Wiley’s version of record on Wiley Online Library and any embedding, framing or otherwise making available the article or pages thereof by third parties from platforms, services and websites other than Wiley Online Library must be prohibited.
Divisions:	Faculties > Science and Engineering
Subject terms:	0604 Genetics, 1103 Clinical Sciences
URI:	https://e-space.mmu.ac.uk/id/eprint/629771
DOI:	https://doi.org/10.1002/ajmg.a.30076
ISSN	0148-7299

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