A rare triploidy case with long term survival : a case report study

الملخص 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.