A rare triploidy case with long term survival : a case report study
Joint Authors
Chaichian, Shahla
Akhlaghdoust, Meisam
Zarbati, Nesa
Saberi, S. Hoseinali
Muhammadkhani, Nisrin
Asami, Mahshad
Hadipour, Fatimah
Hadipour, Zahrah
Shafeghati, Yusuf
Nikfar, Banafsheh
Vasei, Narges
Behjati, Farkhondeh
Source
Iranian Red Crescent Medical Journal
Issue
Vol. 19, Issue 7 (31 Jul. 2017), pp.1-5, 5 p.
Publisher
Publication Date
2017-07-31
Country of Publication
United Arab Emirates
No. of Pages
5
Main Subjects
Topics
Abstract EN
Triploidy is the most frequent chromosome abnormality in the gestational age.
According to the study, survival of more than 2 months in triploid patients is very rare.
A 7-year-old girl with mild mental retardation with dysmorphism was referred for genetic counseling and clinical evaluation to Sarem medical genetics department (Tehran, Iran, 2013).
Clinical features of the child were mental retardation, prominent upper lip, microgenitalia, prominent forehead, foot fingers syndactyly, and short hypoplastic 5th finger.
G banding technique, skin biopsy, and Fluorescence in situ hybridization (FISH) testing were performed.
Brain Imaging was evaluated.
The karyotype of patient showed triploid (69, XXX) chromosome complement in all the metaphase spreads.
However, two cell lines were found in metaphase of cultured cutaneous biopsy.
The majority of the cells the body were triploid (69, XXX) and 16% of cells were diploid (46, XX).
Findings of the FISH testing using X and Y Satellite enumeration probes in all studied peripheral blood lymphocyte (PBL) cells, included 3 signals and none signal respectively indicating X and Y chromosomes.
Also, cultured of cutaneous biopsy finding showed 66% of cells had three signals (triploid) and 34 percent of cells had two signals (diploid) and mosaicism was confirmed.
Karyotypes of parents and the brain imaging were normal.
This study presents a rare case of triploidy with long survival with normal karyotypes of PBL and mosaicism in skin biopsy and interphase FISH.
American Psychological Association (APA)
Akhlaghdoust, Meisam& Zarbati, Nesa& Chaichian, Shahla& Saberi, S. Hoseinali& Muhammadkhani, Nisrin& Asami, Mahshad…[et al.]. 2017. A rare triploidy case with long term survival : a case report study. Iranian Red Crescent Medical Journal،Vol. 19, no. 7, pp.1-5.
https://search.emarefa.net/detail/BIM-767137
Modern Language Association (MLA)
Akhlaghdoust, Meisam…[et al.]. A rare triploidy case with long term survival : a case report study. Iranian Red Crescent Medical Journal Vol. 19, no. 7 (Jul. 2017), pp.1-5.
https://search.emarefa.net/detail/BIM-767137
American Medical Association (AMA)
Akhlaghdoust, Meisam& Zarbati, Nesa& Chaichian, Shahla& Saberi, S. Hoseinali& Muhammadkhani, Nisrin& Asami, Mahshad…[et al.]. A rare triploidy case with long term survival : a case report study. Iranian Red Crescent Medical Journal. 2017. Vol. 19, no. 7, pp.1-5.
https://search.emarefa.net/detail/BIM-767137
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references : p. 5
Record ID
BIM-767137