Pericentric Inversion of Chromosome 9 in Twins With Cyclopia: A Rare Entity.

Autor:	Nik Lah NAZ; Department of Obstetrics and Gynecology, School of Medical Sciences, Universiti Sains Malaysia, Kubang Kerian, Kota Bharu, MYS., Taib F; Department of Pediatrics, School of Medical Sciences, University Sains Malaysia, Kubang Kerian, Kota Bharu, MYS., Mohamad Zon E; Department of Obstetrics and Gynaecology, School of Medical Sciences, Universiti Sains Malaysia, Kubang Kerian, Kota Bharu, MYS., Engku Ismail EH; Department of Obstetrics & Gynaecology, School of Medical Sciences, Universiti Sains Malaysia, Kubang Kerian, Kota Bharu, MYS., Annuar AA; Human Genome Centre, School of Medical Sciences, Universiti Sains Malaysia, Kubang Kerian, Kota Bharu, MYS.
Jazyk:	angličtina
Zdroj:	Cureus [Cureus] 2023 Feb 02; Vol. 15 (2), pp. e34562. Date of Electronic Publication: 2023 Feb 02 (Print Publication: 2023).
DOI:	10.7759/cureus.34562
Abstrakt:	Pericentric inversion of chromosome 9 (inv(9)) is one of the most common variants seen in a normal human karyotype that occurs during meiosis. Despite being categorized as a normal variant, some studies using classical cytogenetics have recently shown that inv(9) could be associated with azoospermia, congenital anomalies, growth retardation, and rarely with abnormal karyotype. However, there is no reported association with cyclopia. Interestingly this genetic variant involves twin fetuses. A 36-year-old multiparous lady with dichorionic diamniotic twin pregnancy presented to the fetomaternal unit with fetal growth restriction at 34 weeks of gestation. An ultrasound scan revealed both have microcephaly, fisting hands, holoprosencephaly, and proboscis suspicious of Patau syndrome. Amniocentesis was not issued due to late pregnancy and guarded prognosis. The mother presented with pre-eclampsia at 35 weeks of gestation. The pregnancy managed to prolong up to 36 weeks after which caesarean section was performed due to the leading twin being in a transverse lie. Two baby twin girls were born 3 minutes apart with microcephaly and cyclops appearance. Chromosomal analysis of both twins revealed similar karyotypes of 46, XX, inv(9)(p11,q13). Pericentric inversion of chromosome 9 is regarded as a normal chromosomal variation in the general population, but in twins with cyclops is considered rare. Early referral to a tertiary hospital for twin management is highly required. It may identify fetuses with such abnormalities and counsel the parents with appropriate management. Competing Interests: The authors have declared that no competing interests exist. (Copyright © 2023, Nik Lah et al.)
Databáze:	MEDLINE
Externí odkaz:	Zobrazit plný text záznamu