TY - JOUR ID - 40360 TI - Report of a Case with Trisomy 9 Mosaicism JO - Iranian Journal of Medical Sciences JA - IJMS LA - en SN - 0253-0716 AU - Miryounesi, Mohammad AU - Dianatpour, Mehdi AU - Shadmani, Zahra AU - Ghafouri-Fard, Soudeh AD - Genomic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran AD - Department of Medical Genetics, Shiraz University of Medical Sciences, Shiraz, Iran AD - Vali-Asr Hospital, Fasa University of Medical Sciences, Fasa, Iran AD - Department of Medical Genetics, Shahid Beheshti University of Medical Sciences, Tehran, Iran Y1 - 2016 PY - 2016 VL - 41 IS - 3 SP - 249 EP - 252 KW - Mosaicism KW - Chromosome 9 KW - trisomy KW - Cytogenetic analysis DO - N2 - Trisomy 9 is a rare chromosome disorder with high neonatal mortality. It is often seen in mosaic form. Most patients who survive are severely mentally retarded. The main features of this syndrome are "bulbous" nose, microphthalmia, dislocated limbs, and other anomalies of skeletal, cardiac, genitourinary, and central nervous system. Most patients have developmental and cognitive impairment. Patients with mosaicism survive longer than non-mosaics, but it was believed that the degree of mosaicism in lymphocytes or fibroblasts does not associate with survival or degree of impairment. In this report, we present a 2.5-year-old male case of mosaic trisomy 9, to show the wide range of clinical findings in this chromosome disorder. The patient had cardiac anomalies, inguinal hernia, and undescendent testes. He had low-set slightly malformed ears, deeply-set malformed eyes, small palpebral fissures, micrognathia, developmental delay and unilateral optic hypoplasia. The most prominent facial anomaly in this patient was eye anomalies. Cytogenetic analysis with G banding showed karyotype 47XY,+9 in 44% of peripheral lymphocytes examined (47XY,+9[22], 46XY[28]). His parents’ karyotypes were normal. Moderate developmental delay, which was detected in this patient shows that the range of motor and cognitive impairment in this chromosomal disorder is quite broad. This fact should be considered in genetic counseling as well as prenatal diagnosis of this chromosomal disorder. UR - https://ijms.sums.ac.ir/article_40360.html L1 - https://ijms.sums.ac.ir/article_40360_23ca6ca086c8b2c3b2bb98f3e14919db.pdf ER -