An infant is described with multiple congenital anomalies associated with mosaic trisomy 9. Review of the three previously reported cases of trisomy 9 shows that these patients have several common features which make trisomy 9 a clinically distinct syndrome. The frequently ...
John Wiley & Sons, Ltd.Prenatal DiagnosisTseng JJ, Chou MM, Ho ESC. Varix of the portal vein: pre- natal diagnosis in a fetus with mosaic trisomy 9 syndrome. Prenat Diagn 2002;22:495-7.
Up to date, 11 liveborn infants with trisomy 9 have been reported, which allows us to make a karyotype/phenotype correlation. Minimal clinical diagnostic criteria are defined, on the basis of which the presence of this syndrome can be suspected....
Mosaic embryos can continue to develop throughout the pre- and post implantation period leading to the formation of diploid-aneuploid mosaic fetuses. In this case study, Chr9 STR analyses of the family pedigree revealed that the proband had inherited two identical copies of paternal Chr9 (iso...
Mosaicisim with a derivative of 21 translocation and normal cell line is one of rare cases of Down syndrome patients. In the present case dysmorphic features and developmental delay were compatible with clinical diagnosis of Down syndrome. Cytogenetic analysis demonstrated a mosaic pattern of normal ...
Down syndrome,Down's syndrome,mongolianism,mongolism,trisomy 21- a congenital disorder caused by having an extra 21st chromosome; results in a flat face and short stature and mental retardation chromosomal aberration,chromosomal anomaly,chromosonal disorder,chrosomal abnormality- any change in the normal...
Varix of the portal vein: prenatal diagnosis in a fetus with mosaic trisomy 9 syndrome Prenat Diagn, 22 (2002), pp. 495-497 View in ScopusGoogle Scholar 30 F Stipoljev, M Kos, M Kos, B Miskovi, R Matijevic, T Hafner, A Kurjak Antenatal detection of mosaic trisomy 9 by ultrasound:...
A distinct clinical syndrome appears to be associated with this rare autosomal trisomy. This is a preview of subscription content, log in via an institution to check access. References Bloom, A. D., Schmickel, R., Barr, M., Burdi, A. R.: Prenatal detection of autosomal mosaicis. J....
Infertility is almost universal in nonmosaic cases, although the success rate of reproductive technologies such as intracytoplasmic sperm injection in adult men with XXY is rapidly increasing. Affected adult men also have increased risks for breast cancer, osteoporosis, diabetes, hypothyroidism, and ...
H., Hagberg, B., Santesson, B.: Mosaic trisomy of an autosome in the 6–12 group in a patient with multiple congenital anomalies. Acta paediat. scand. 56, 681–686 (1967) Google Scholar Hellström, K., Hagenfeldt, L., Larsson, A., Lindsten, J., Sundelin, P., Tiepolo, L....