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Article

Deletion involving the TWIST locus and the HOXA cluster: a contiguous gene syndrome on 7p?

Congenital anomalies - 1 Mar 2005

Kosaki Rika, Higuchi Masataka, Mitsui Norimasa, Matsushima Kazushige, Ohashi Hirofumi, Kosaki Kenjiro

Abstract excerpt

Deletion of TWIST on 7p21 leads to Saethre-Chotzen syndrome, whereas deletion of the HOXA cluster on 7p15.2 leads to hand-foot-genital syndrome. We report here a patient with 46,XY,del(7)(p15.2p21) who had craniosynostosis, maxillary hypoplasia, prominent ear crus, rectoperineal fistula, and hypoplastic fifth fingers. Using fluorescence in situ hybridization, we demonstrated the deletion to encompass the TWIST...

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Identifiers

PMID: 15737130
DOI: 10.1111/j.1741-4520.2005.00059.x

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Deletion involving the TWIST locus and the HOXA cluster: a contiguous gene syndrome on 7p?PMID 15737130Read ↗

Severe Developmental Delay in a Patient with 7p21.1–p14.3 Microdeletion Spanning the <i>TWIST</i> Gene and the <i>HOXA</i> Gene ClusterSemantic proximity Read ↗

Mutations of the TWIST gene in the Saethre-Chotzen syndrome.Semantic proximity Read ↗

Phenotypic findings due to trisomy 7p15.3-pter including the TWIST locus.Semantic proximity Read ↗

Translocation breakpoint maps 5 kb 3' from TWIST in a patient affected with Saethre-Chotzen syndrome.Semantic proximity Read ↗

Mutations in TWIST, a basic helix-loop-helix transcription factor, in Saethre-Chotzen syndrome.Semantic proximity Read ↗

A de novo balanced translocation t(7;12)(p21.2;p12.3) in a patient with Saethre-Chotzen-like phenotype downregulates TWIST and an osteoclastic protein-tyrosine phosphatase, PTP-oc.Semantic proximity Read ↗

Molecular cytogenetic and clinical characterization of a patient with a 5.6-Mb deletion in 7p15 including HOXA cluster.Semantic proximity Read ↗

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Increased risk for developmental delay in Saethre-Chotzen syndrome is associated with TWIST deletions: an improved strategy for TWIST mutation screening.Semantic proximity Read ↗

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Saethre–Chotzen syndrome with an atypical phenotype: identification of TWIST microdeletion by array CGH.Semantic proximity Read ↗

Mutations in the human TWIST gene.Semantic proximity Read ↗

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