Please use this identifier to cite or link to this item: 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

Show full item record



CORE Recommender

SCOPUSTM   
Citations

1
checked on Nov 30, 2024

Page view(s)

70
checked on Aug 24, 2024

Google ScholarTM

Check




Altmetric


Items in GCRIS Repository are protected by copyright, with all rights reserved, unless otherwise indicated.