@article{3078842,
    title = "Craniofacial and Neurological Phenotype in a Patient with De Novo 18q Microdeletion and 18p Microduplication",
    author = "Yapijakis, C. and Angelopoulou, A. and Manolakos, E. and Voumvourakis, C.",
    journal = "Advances in Experimental Medicine and Biology",
    year = "2020",
    volume = "1195",
    pages = "163-166",
    publisher = "Springer-Verlag",
    doi = "10.1007/978-3-030-32633-3_22",
    keywords = "18p partial trisomy;  18q partial monosomy;  ADL disability;  adult;  ataxia;  balance impairment;  case report;  chromosome 18p;  chromosome 18q;  cleft palate;  clinical article;  comparative genomic hybridization;  craniofacial malformation;  epilepsy;  female;  gait disorder;  genetic counseling;  hearing impairment;  human;  low set ear;  macrodactyly;  mental deficiency;  microcephaly;  middle aged;  midface hypoplasia;  Mini Mental State Examination;  muscle hypotonia;  neurologic disease;  partial monosomy;  partial trisomy;  pedigree analysis;  priority journal;  strabismus;  tremor;  chromosome 18;  chromosome deletion;  chromosome disorder;  chromosome duplication;  craniofacial malformation;  genetics;  karyotyping;  male;  phenotype;  syndrome, Chromosome Deletion;  Chromosome Disorders;  Chromosome Duplication;  Chromosomes, Human, Pair 18;  Comparative Genomic Hybridization;  Craniofacial Abnormalities;  Female;  Humans;  Karyotyping;  Male;  Middle Aged;  Phenotype;  Syndrome",
    abstract = "Introduction: Chromosome 18q deletion syndrome (18q-) is a rare chromosomal disorder with phenotypic variability, including mental deficiency, short stature, hypotonia, cleft palate, and hearing impairment. We present a case with features of 18q- syndrome who had combined 18q partial monosomy and 18p partial trisomy. Material and Methods: A 50-year-old female patient was examined during the genetic counseling of her brother. She had a history of congenital cleft palate and developmental deficiency with hypotonia, hearing loss, and epilepsy until adulthood. Her family history was free of related cases. Karyotype analysis and comparative genomic hybridization array (aCGH) were performed in patient’s blood samples. Results: Clinical examination showed features of 18q- syndrome including hypotonia and tremor. Neuropsychological deficiency of moderate cognitive disorder was noticed. The patient’s karyotype was normal. The aCGH analysis revealed 8 Mb deletion (del18q22.3q23) and 7.2 Mb duplication (dup18p11.32p11.23). Conclusion: Almost all patients’ clinical features were associated with 18q- syndrome. There are very few reported cases with similar genotype possibly caused by a de novo unequal recombination mechanism. © Springer Nature Switzerland AG 2020."
}