Author/Authors :
Shafeghati Yousef نويسنده , Behjati Farkhondeh نويسنده , Akhlaghdoust Meisam نويسنده Medical Students Research Committee, Islamic Azad University, Tehran Medical Branch, Tehran, Iran Akhlaghdoust Meisam , Chaichian Shahla نويسنده MD. Associated professor of gynecology fellowship of laparoscopic surgery, Minimally Invasive Surgery Research Center , Zarbati Nesa نويسنده Sarem Cell Research Center- SCRC, Sarem Womens Hospital, Tehran, Iran. Zarbati Nesa , Hadipour Fatemeh نويسنده Department of Medical Genetics, Sarem Cell Research Center & Hospital, Tehran, Iran. Hadipour Fatemeh , Hadipour Zahra نويسنده Department of Medical Genetics, Sarem Cell Research Center & Hospital, Tehran, Iran. Hadipour Zahra , Saberi S. Hoseinali نويسنده Social Welfare and Rehabilitation Center, Karaj, Iran
(Karaj Welfare Organization) , Mohammadkhani Nasrin نويسنده Department of Medical Genetics and Sarem Cell Research
Center (SCRC), Sarem Women’s Hospital, Tehran, Iran , Asami Mahshad نويسنده Department of Medical Genetics and Sarem Cell Research
Center (SCRC), Sarem Women’s Hospital, Tehran, Iran , Nikfar Banafsheh نويسنده Pars Advanced and Minimally Invasive Medical Manners
Research Center, Pars Hospital, Iran University of Medical Sciences,
Tehran, Iran , Vasei Narges نويسنده Department of Surgery, Besat Hospital, AJA University of
Medical Sciences, Tehran, Iran
Abstract :
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.
