A female infant with trisomy 9 in 58% of her cells is reported. Multiple congenital malformations were present, but she had normal psychomotor development. A pericentric inversion involving a portion of the centromeric heterochromatin of chromosome 9 was identified in the patient and her mother. This variant chromosome 9 was present in duplicate in the trisomic line. Since similar variants of 9...

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. Pat...

We present three cases of trisomy 9 mosaicism diagnosed by amniocentesis with ongoing pregnancies after referral to our center due to fetal abnormalities. Two cases were associated with severe fetal growth restriction (FGR), each of which resulted in an intrauterine fetal demise (IUFD) in the third trimester. The other case involved mild FGR with a congenital diaphragmatic hernia and resulted i...

Trisomy 9 is a rare chromosomal abnormality with a very poor prognosis depending mostly on the amount and exact location of the duplicated genetic material. Most of the fetuses with complete trisomy 9 are spontaneously aborted in the early first trimester and therefore it is uncommonly seen at the time of 11-14 weeks’ scan. The diagnosis is usually made after fetal karyotyping performed for rou...

Smear preparations from fine-needle aspirates of 30 prostatic carcinomas obtained from radical prostatectomy specimens were examined by a dual-color fluorescence in situ hybridization (FISH) method for the presence of chromosome 7 trisomy (chromosome 9 was used as a control). The frequency of cells with trisomy 7 was determined in tumor cells and normal prostatic epithelial cells in each specim...

A new patient with trisomy for the chromosome segment 9pter----q22 is compared to 19 previously reported cases of partial trisomy 9. Manifestations such as microcephaly, prominent nasal root, bulbous nose, and down-turned corners of the mouth are common to patients with trisomic segments extending from 9p21 to 9q13, while intra-uterine growth retardation, cleft lip/palate, skeletal anomalies, a...