Case Report: a novel chromosomal insertion, 46, XY, inv ins(18;2)(q11.2;q13q22), in a patient with infertility and mild intellectual disability.

Murat Kaya, İlknur Suer, Şükrü Öztürk, Kıvanç Çefle, Birsen Karaman, Şükrü Palanduz

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Article in F1000Research, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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6 authors at 1 institution in 1 country.

Murat KayaDepartment of Medical Genetics of Internal Diseases, Istanbul Medical Faculty, İstanbul University, İstanbul, Turkey.ORCID 0000-0003-2241-7088

İlknur SuerDepartment of Medical Genetics of Internal Diseases, Istanbul Medical Faculty, İstanbul University, İstanbul, Turkey.

Şükrü ÖztürkDepartment of Medical Genetics of Internal Diseases, Istanbul Medical Faculty, İstanbul University, İstanbul, Turkey.

Kıvanç ÇefleDepartment of Medical Genetics of Internal Diseases, Istanbul Medical Faculty, İstanbul University, İstanbul, Turkey.

Birsen KaramanDepartment of Medical Genetics, İstanbul Medical Faculty, Istanbul University, Istanbul, Turkey.

Şükrü PalanduzDepartment of Medical Genetics of Internal Diseases, Istanbul Medical Faculty, İstanbul University, İstanbul, Turkey.

Istanbul University · TR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Infertility is an important health problem affecting 15% of couples worldwide. Intellectual disability (ID) is characterized with significant impairment of intellectual function, adaptive daily life skills and social skills. Insertion is a rare chromosomal rearrangement causing infertility and ID. Here, we report a 39-year-old man presenting with primary infertility and mild ID. The patient's spermiogram was consistent with azoospermia. Conventional cytogenetic analysis showed a novel inversion/insertion type of chromosomal aberration involving chromosomes 18 and 2: 46, XY, inv ins(18;2)(q11.2;q13q22). We carried out the array comparative genomic hybridization analysis to confirm the cytogenetic findings. Y micro-deletion analysis demonstrated that the AZF region as intact. We suggest that the novel insertion found in this case [46, XY, inv ins(18;2)(q11.2;q13q22)] may have caused infertility and mild ID in our patient. To the best of our knowledge, this chromosomal insertion has not previously been reported.

Indexed as

Chromosome InversionMutagenesis, InsertionalAdultChromosomes, Human, Pair 18Chromosomes, Human, Pair 2Comparative Genomic HybridizationHumansInfertility, MaleIntellectual DisabilityMaleInfertilityinsertionmild intellectual disability

Identifiers

PMID31231514

DOI10.12688/f1000research.18455.1

PMCPMC6567292

OpenAlexW2921049982

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