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Terminal chromosome 4q deletion syndrome in an infant with hearing impairment and moderate syndromic features: review of literature
Zitieren Sie bitte immer diese URN: urn:nbn:de:bvb:20-opus-110540
- Background Terminal deletions of chromosome 4q are associated with a broad spectrum of phenotypes including cardiac, craniofacial, digital, and cognitive impairment. The rarity of this syndrome renders genotype-phenotype correlation difficult, which is further complicated by the widely different phenotypes observed in patients sharing similar deletion intervals. Case presentation Herein, we describe a boy with congenital hearing impairment and a variety of moderate syndromic features that prompted SNP array analysis disclosing aBackground Terminal deletions of chromosome 4q are associated with a broad spectrum of phenotypes including cardiac, craniofacial, digital, and cognitive impairment. The rarity of this syndrome renders genotype-phenotype correlation difficult, which is further complicated by the widely different phenotypes observed in patients sharing similar deletion intervals. Case presentation Herein, we describe a boy with congenital hearing impairment and a variety of moderate syndromic features that prompted SNP array analysis disclosing a heterozygous 6.9 Mb deletion in the 4q35.1q35.2 region, which emerged de novo in the maternal germ line. Conclusion In addition to the index patient, we review 35 cases from the literature and DECIPHER database to attempt genotype-phenotype correlations for a syndrome with great phenotypic variability. We delineate intervals with recurrent phenotypic overlap, particularly for cleft palate, congenital heart defect, intellectual disability, and autism spectrum disorder. Broad phenotypic presentation of the terminal 4q deletion syndrome is consistent with incomplete penetrance of the individual symptoms.…
Autor(en): | Thomas Haaf, Barbara Vona, Indrajit Nanda, Cordula Neuner, Jörg Schröder, Vera M. Kalscheuer, Wafaa Shehata-Dieler |
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URN: | urn:nbn:de:bvb:20-opus-110540 |
Dokumentart: | Artikel / Aufsatz in einer Zeitschrift |
Institute der Universität: | Medizinische Fakultät / Institut für Humangenetik |
Medizinische Fakultät / Klinik und Poliklinik für Unfall-, Hand-, Plastische und Wiederherstellungschirurgie (Chirurgische Klinik II) | |
Sprache der Veröffentlichung: | Englisch |
Erscheinungsjahr: | 2014 |
Originalveröffentlichung / Quelle: | BMC Medical Genetics 2014, 15:72. doi:10.1186/1471-2350-15-72 |
DOI: | https://doi.org/10.1186/1471-2350-15-72 |
Sonstige beteiligte Institutionen: | Comprehensive Hearing Center, Department of ORL, Plastic, Aesthetic and Reconstructive Head and Neck Surgery, Würzburg, Germany |
Allgemeine fachliche Zuordnung (DDC-Klassifikation): | 6 Technik, Medizin, angewandte Wissenschaften / 61 Medizin und Gesundheit / 610 Medizin und Gesundheit |
Freie Schlagwort(e): | Copy number variation; Genotype-phenotype association; Parent-of-origin; SNP array; Terminal 4q deletion syndrome |
Datum der Freischaltung: | 04.03.2015 |
Sammlungen: | Open-Access-Publikationsfonds / Förderzeitraum 2014 |
Lizenz (Deutsch): | CC BY: Creative-Commons-Lizenz: Namensnennung |