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Article

Phenotypic findings due to trisomy 7p15.3-pter including the TWIST locus.

American journal of medical genetics - 15 Sept 2001

Stankiewicz P, Thiele H, Baldermann C, Krüger A, Giannakudis I, Dörr S, Werner N, Kunz J, Rappold G A, Hansmann I

Abstract excerpt

We report on a three-month-old boy with a 46,XY,der(Y)t(Y;7)(p11.32;p15.3) karyotype and growth deficiency, postnatal microcephaly with large fontanels, wide sagittal and metopic sutures, hypertelorism, choanal stenosis, micrognathia, bilateral cryptorchidism, hypospadias, abnormal fingers and toes, and severe developmental delay. FISH studies showed partial trisomy 7p resulting from a de novo unbalanced...

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Identifiers

PMID: 11562935
DOI: 10.1002/ajmg.1512

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Phenotypic findings due to trisomy 7p15.3-pter including the TWIST locus.PMID 11562935Read ↗

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

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 ↗

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

Prenatal diagnosis of craniosynostosis (compound Saethre-Chotzen syndrome phenotype) caused by a de novo complex chromosomal rearrangement (1; 4; 7) with a microdeletion of 7p21.3-7p15.3, including TWIST1 gene--a case report.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 ↗

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

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

Trisomy 17p11-pter: unbalanced pericentric inversion, inv(17)(p11q25) in two patients, unbalanced translocations t(4;17)(q27;p11) in a newborn and t(4;17) (p16;p11.2) in a fetus.Semantic proximity Read ↗

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

Microdeletions of 5.5 Mb (4q13.2-q13.3) and 4.1 Mb (7p15.3-p21.1) associated with a saethre-chotzen-like phenotype, severe intellectual disability, and autism.Semantic proximity Read ↗

Distal monosomy 16p13.3/distal trisomy 2p24.2-pter: molecular-cytogenetic characterisation and phenotype.Semantic proximity Read ↗

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

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