Clinical manifestations in trisomy 9

  title={Clinical manifestations in trisomy 9},
  author={Thirumulu Ponnuraj Kannan and S. Hemlatha and Ravindran Ankathil and Bin Alwi Zilfalil},
  journal={The Indian Journal of Pediatrics},
Complete trisomy 9 is a lethal diagnosis and most fetuses diagnosed thus die prenatally or during the early postnatal period and majority of such cases have been known to end in spontaneous abortion in the first trimester itself. One such rare survival of fetus ending in normal delivery and surviving until 20 days is reported here detailing the clinical manifestations of the child during the period of survival. The salient clinical features observed were small face, wide fontanel, prominent… 
Severe micrognathia in the first trimester in complete trisomy 9 - a case report and literature review
A case of complete trisomy 9 diagnosed after chorionic villus sampling performed because of the detection of severe micrognathia at 13 weeks gestation is presented.
Isolated Asymptomatic Short Sternum in a Healthy Young Girl
This work observed a short sternum (dysmorphic manubrium, hypoplastic body, and complete absence of the xiphoid process) in a completely asymptomatic 13-year-old woman, the first case of isolated short sternal defects reported in literature.
9q34 & 16p13 chromosome duplications in autism.
The first case in the medical literature of double partial trisomy of chromosome 9q34 and 16p13 is reported, due to several cytogenetic techniques such as microarray analysis and karyotyping.
Molecular diagnosis of developmental disorders
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Clinical delineation of trisomy 9 syndrome.
A rare but typical case of trisomy 9 mosaicism is reported; the infant showed the characteristic phenotype of this syndrome, but did not have dislocation of joints or microcephaly; the head was larger than normal and had almost a cloverleaf shape.
Prenatal Diagnosis of Trisomy 9
A case of nonmosaic fetal trisomy 9, mimicking trisomies 13 and 18 on sonographic findings at 32 weeks’ gestation is reported.
A Case of Trisomy 9
Clinical findings included microcephaly, low-set malformed ears, small palpebral fissures, enophthalmos, bulbous nose, micrognathia, low hairline, congenital heart disease, skeletal abnormalities, small penis, hypoplastic scrotum, and a Dandy-Walker like deformity of the fourth ventricle.
Prenatal Diagnosis of Nonmosaic Trisomy 9 in a Fetus with Severe Renal Disease
It is demonstrated that fetuses with nonmosaic trisomy 9 may present with severe renal abnormalities and confirms that cases seen in the second and third trimesters usually have a dismal outcome.
Prenatal Sonographic Findings Associated With Nonmosaic Trisomy 9 and Literature Review
The purpose of this report is to describe the prenatal sonographic findings in a second-trimester fetus with trisomy 9 and also to review the sonography findings of all published cases of nonmosaic trisome 9 that were specifically detected on sonography.
Complete trisomy 9: case report with ultrasound findings.
  • R. Mcduffie
  • Medicine
    American journal of perinatology
  • 1994
A 29-year-old gravida III, para II was referred at 34 weeks because of abnormal ultrasound findings, which included intrauterine growth retardation, Dandy-Walker malformation, a single atrium, liver calcifications, a two-vessel cord, and abnormal Doppler studies.
Mosaic vs. nonmosaic trisomy 9: report of a liveborn infant evaluated by fluorescence in situ hybridization and review of the literature.
Results suggest that earlier reports of trisomy 9, which relied on conventional chromosome analysis of a few metaphase cells and/or only one tissue type, may not have excluded mosaicism, and that tr isomy 9 may be viable only in the mosaic state.
Antenatal detection of mosaic trisomy 9 by ultrasound: a case report and literature review
  • F. Stipoljev, M. Kos, B. Miškovi, R. Matijević, T. Hafner, A. Kurjak
  • Medicine
    The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians
  • 2003
This paper presents a fetus with mosaic trisomy 9 diagnosed by chorionic villus sampling and confirmed by cordocentesis, and compares this case with published cases in order better to define the
Prenatal diagnosis of nonmosaic trisomy 9 and related ultrasound findings at 11.7 weeks.
A case of nonmosaic trisomy 9 diagnosed prenatally with ultrasound findings at 11.7 weeks gestation is presented along with associated abnormal ultrasound findings.