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Cited by 55Craniofacial Disorders and TreatmentsGenomic variations and chromosomal abnormalitiesGenomics and Rare Diseases

Molecular screening for microdeletions at 9p22‐p24 and 11q23‐q24 in a large cohort of patients with trigonocephaly

Jehee, FS, Johnson, D, Alonso, LG, Cavalcanti, DP, De Sá Moreira, E, Alberto, FL, Kok, F, Kim, C +5 more·2005·Clinical Genetics
DOI 10.1111/j.1399-0004.2005.00438.x
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Abstract

Trigonocephaly is a rare form of craniosynostosis characterized by the premature closure of the metopic suture. To contribute to a better understanding of the genetic basis of metopic synostosis and in an attempt to restrict the candidate regions related to metopic suture fusion, we studied 76 unrelated patients with syndromic and non‐syndromic trigonocephaly. We found a larger proportion of syndromic cases in our population and the ratio of affected male to female was 1.8 : 1 and 5 : 1 in the non‐syndromic and syndromic groups, respectively. A microdeletion screening at 9p22‐p24 and 11q23‐q24 was carried out for all patients and deletions in seven of them were detected, corresponding to 19.4% of all syndromic cases. Deletions were not found in non‐syndromic patients. We suggest that a molecular screening for microdeletions at 9p22‐p24 and 11q23‐q24 should be offered to all syndromic cases with an apparently normal karyotype because it can potentially elucidate the cause of trigonocephaly in this subset of patients. We also suggest that genes on the X‐chromosome play a major role in syndromic trigonocephaly.

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Crossref · 10.1111/j.1399-0004.2005.00438.x

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  • Other non-random associations that do not show complete penetrance are with deletions of 9p22 and 11q23.3-qter (metopic synostosis).

    “Other non-random associations that do not show complete penetrance are with deletions of 9p22 and 11q23.3-qter(metopic synostosis).37”

    From Craniosynostosis (2011) · cites this paper as [37]

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Authors
Jehee, F., Johnson, D., Alonso, L., Cavalcanti, D., De Sá Moreira, E., Alberto, F., Kok, F., Kim, C., Wall, S., Jabs, E., Boyadjiev, S., Wilkie, A., & Passos‐Bueno, M.
Affiliations
  • Universidade de São Paulo (BR)
  • John Radcliffe Hospital (GB)
  • Universidade Estadual de Campinas (UNICAMP) (BR)
  • Fleury S.A. (Brazil) (BR)
  • Johns Hopkins University (US)
Corresponding author
Passos‐Bueno, MR
ORCID
Venue
Clinical Genetics
Publisher
Wiley
Published
2005-03-31
Volume
67
Issue
6
Pages
503-510
ISSN
  • 0009-9163 (ISSN-L)
  • 1399-0004
DOI
10.1111/j.1399-0004.2005.00438.x
OpenAlex
W1960443768
Cited by
55
References
22
Citations by year
2024: 2 · 2021: 1 · 2020: 2 · 2019: 5 · 2018: 1 · 2017: 5 · 2016: 2 · 2015: 2 · 2014: 2 · 2013: 3 · 2012: 3
FWCI
2.89
Type
journal article
Language
en
Open access
closed
Licence
onlinelibrary.wiley.com/termsAndConditions#vor (vor)
Locations
  • Clinical Genetics (publishedVersion)
  • PubMed (publishedVersion)
  • UNIFESP Institutional Repository (Universidade Federal de São Paulo) (submittedVersion)
Funders
  • Fundação de Amparo à Pesquisa do Estado de São Paulo
  • National Institute of Dental and Craniofacial Research (K23 DE 00462, K23DE000462)
  • National Center for Research Resources (M01 RR-00052, M01RR000052)
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Craniofacial Disorders and Treatments
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
Keywords
trigonocephaly, craniosynostosis, metopic synostosis, sex ratio, X-linked genes, molecular screening
MeSH terms
Child, Child, Preschool, Chromosome Deletion, Chromosomes, Human, Pair 11, Chromosomes, Human, Pair 9, Craniosynostoses, Female, Genetic Testing, Humans, Infant, Karyotyping, Male, Pedigree, Phenotype, Cohort Studies

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