| Duplication 5q and Deletion 9p due to a t(5;9)(q34;p23) in 2 Cousins with Features of Hunter-McAlpine Syndrome and Hypothyroidism. | |
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MedLine Citation:
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PMID: 21063078 Owner: NLM Status: In-Data-Review |
Abstract/OtherAbstract:
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We report on 2 similarly affected cousins with a compound imbalance resulting from a familial t(5;9)(q34;p23) and entailing both an ∼17-Mb 5q terminal duplication and an ∼12-Mb 9p terminal deletion as determined by G-banding, subtelomere FISH, and aCGH. The proband's karyotype was 46,XX,der(9)t(5;9)(q34;p23)mat.ish der(9)t(5;9)(q34;p23)(9pter-,5qter+).arr 5q34q35(163,328,000-180,629,000)×3, 9p24p23(194,000-12,664,000)×1. Her cousin had the same unbalanced karyotype inherited from his father. The clinical phenotype mainly consists of a distinct craniofacial dysmorphism featuring microcephaly, flat facies, down slanting palpebral fissures, small flat nose, long philtrum, and small mouth with thin upper lip. Additional remarkable findings were craniosynostosis of several sutures, craniolacunia and preaxial polydactyly in the proband and hypothyroidism in both subjects. The observed clinical constellation generally fits the phenotypic spectrum of the 5q distal duplication syndrome (known also as Hunter-McAlpine syndrome), except for the thyroid insufficiency which can likely be ascribed to the concurrent 9p deletion, as at least 4 other 9pter monosomic patients without chromosome 5 involvement had this hormonal disorder. The present observation further confirms the etiology of the HMS phenotype from gain of the 5q35→qter region, expands the clinical pictures of partial trisomy 5q and monosomy 9p, and provides a comprehensive list of 160 patients with 5q distal duplication. |
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Authors:
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A I Vásquez-Velásquez; H A García-Castillo; M G González-Mercado; I P Dávalos; G Raca; X Xu; E Dwyer; H Rivera |
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Publication Detail:
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Type: Journal Article Date: 2010-11-10 |
Journal Detail:
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Title: Cytogenetic and genome research Volume: 132 ISSN: 1424-859X ISO Abbreviation: Cytogenet. Genome Res. Publication Date: 2011 |
Date Detail:
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Created Date: 2011-02-10 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 101142708 Medline TA: Cytogenet Genome Res Country: Switzerland |
Other Details:
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Languages: eng Pagination: 233-8 Citation Subset: IM |
Copyright Information:
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Copyright © 2010 S. Karger AG, Basel. |
Affiliation:
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División de Genética, CIBO, Instituto Mexicano del Seguro Social, Guadalajara, Mexico. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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