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https://hdl.handle.net/11499/50429
Title: | Dicentric Recombinant Chromosome 18 due to Maternal Paracentric Inversion Analyzed by Array CGH | Authors: | Anlas, Özlem Ölmez, Akgun Karaman, Birsen Düzcan, Füsun Yüksel, Selçuk Tümkaya, Funda Bağcı, Gülseren Gunduz, Cavidan Nur Semerci |
Keywords: | Dicentric chromosome 18 Paracentric inversion Array CGH FISH C-banding Partial Monosomy 18q Partial Trisomy 18p Pericentric-Inversion Duplication-Deficiency Short Arm Deletion Phenotype Insertion |
Publisher: | Karger | Abstract: | Introduction: Chromosomal abnormalities are mostly found in 0.5-0.8% of live-born infants with developmental and morphological defects. Paracentric inversions are structural intrachromosomal rearrangements resulting in a risk of chromosomally unbalanced gametes in carriers. Case PreŞentation: Herein, we report a patient with dicentric rearrangement of chromosome 18 due to maternal paracentric inversion of chromosome 18. The patient was a girl, aged 3 years and 11 months. She was referred due to multiple congenital abnormalities, severe intellectual disability, and motor retardation. She had microcephaly, prominent metopic suture, synophrys, epicanthic folds, telecanthus, wide-set alae nasi, wide columella, bilateral cleft lip and palate, pectus carinatum, umbilical hernia, pes planus, and anteriorly displaced anus. She had bilateral external auditory canal stenosis and mild right-sided and moderate left-sided Şensorineural hearing loss. Echocardiography showed secundum-type atrial septal defect and mild tricuspid failure. Brain magnetic resonance imaging showed only thinning of posterior areas of the corpus callosum. Chromosome analysis showed 46,XX,dic rec(18) by GTG and C banding. Dicentric chromosome was confirmed by fluorescence in situ hybridization analysis. Paternal karyotype was normal 46,XY but maternal chromosome analysis showed a paracentric inversion in chromosome 18 with 46,XX,inv(18)(q11.2?q21.3?) karyotype. Array CGH was performed on a peripheral blood sample from the patient and showed duplication at 18p11.32p11.21 and 18q11.1q11.2, and deletion at 18q21.33q23. The patient's final karyotype is arr 18p11.32p11.21(64,847_15,102,598)x3,18q11.1q11.2(18,542,074_22,666,470)x3,18q21.33q23(59,784,364_78,010,032)x1. Discussion: To the best of our knowledge, this is the first report of a patient with dicentric chromosome 18 due to a parental paracentric inversion of chromosome 18. We preŞent the genotype-phenotype correlation with literature review. | URI: | https://doi.org/10.1159/000527160 https://hdl.handle.net/11499/50429 |
ISSN: | 1661-8769 1661-8777 |
Appears in Collections: | Scopus İndeksli Yayınlar Koleksiyonu / Scopus Indexed Publications Collection Tıp Fakültesi Koleksiyonu WoS İndeksli Yayınlar Koleksiyonu / WoS Indexed Publications Collection |
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