A New Case of Rare Microdeletion 10q22.3q23 along with Mosaic Klinefelter Syndrome Associated with Facial Dysmorphic Finding, Atrial Ventricular Septal Defect, and Motor Retardation

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dc.authoridAkcan, Mehmet Berkay/0000-0003-0160-0377
dc.contributor.authorDincsoy Bir, Firdevs
dc.contributor.authorSılan, Fatma
dc.contributor.authorVelickovic, Jelena
dc.contributor.authorBerkay Akcan, Mehmet
dc.contributor.authorÖzdemir, Öztürk
dc.date.accessioned2025-01-27T20:24:35Z
dc.date.available2025-01-27T20:24:35Z
dc.date.issued2022
dc.departmentÇanakkale Onsekiz Mart Üniversitesi
dc.description.abstractThe chromosome 10q22.3q23.2 deletion syndrome is characterized by craniofacial dysmorphic features, developmental delay, congenital heart defect, and hand/foot abnormalities. In this study, we report a patient carrying a microdeletion of 7.5 Mb at 10q22.3q23.2 and in addition a mosaicism mos 47,XXY[47]/46,XY[23].This male patient was 3 years and 3 months years old at the time of genetic evaluation. Atrial ventricular septal defect (AVSD), mild hypotonia, torticollis, and left-sided club foot were noticed after birth. The boy had surgical correction of the AVSD and the club foot. His dysmorphic features were frontal bossing, overfolded ear helix, hypertelorism, epicanthal folds, broad base of nose, flat nasal bridge, full cheeks, thick lips, micrognathia, and joint hyperextensibility. His speech/language development was delayed. Klinefelter syndrome is one of the most common congenital chromosomal abnormalities, but usually it is detected in puberty or in adulthood when reproductive failure occurs. Deletions in the 10q22.3q23.2 region are rare, and previously only a few numbers of cases were described with this microdeletion, but none of them together with Klinefelter syndrome and it could be associated with our case clinical features. The new case described will improve understanding the phenotype associated with 10q22.3q23.2 microdeletions. By presenting this case, we aimed to improve the understanding of the phenotype caused by the rare 10q22.3q23.2 deletion and to show the rare coexistence of this deletion with Klinefelter syndrome.
dc.description.sponsorshipScientific Research Foundation Unit (BAP) of Canakkale Onsekiz Mart University, Canakkale-Turkey [BAP-TAY2015/445]
dc.description.sponsorshipFunding for this research was provided by Scientific Research Foundation Unit (BAP) of Canakkale Onsekiz Mart University, Canakkale-Turkey (Grant no: BAP-TAY2015/445).
dc.identifier.doi10.1159/000519965
dc.identifier.endpage260
dc.identifier.issn1661-8769
dc.identifier.issn1661-8777
dc.identifier.issue3
dc.identifier.pmid35707596
dc.identifier.scopus2-s2.0-85124905802
dc.identifier.scopusqualityQ4
dc.identifier.startpage254
dc.identifier.urihttps://doi.org/10.1159/000519965
dc.identifier.urihttps://hdl.handle.net/20.500.12428/22281
dc.identifier.volume13
dc.identifier.wosWOS:000753756300001
dc.identifier.wosqualityQ4
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.language.isoen
dc.publisherKarger
dc.relation.ispartofMolecular Syndromology
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı
dc.rightsinfo:eu-repo/semantics/openAccess
dc.snmzKA_WoS_20250125
dc.subject10q22
dc.subject3q23
dc.subject2 microdeletion
dc.subjectAtrial ventricular septal defect
dc.subjectKlinefelter syndrome
dc.subjectLanguage delay
dc.subjectMosaicism
dc.titleA New Case of Rare Microdeletion 10q22.3q23 along with Mosaic Klinefelter Syndrome Associated with Facial Dysmorphic Finding, Atrial Ventricular Septal Defect, and Motor Retardation
dc.typeArticle

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