Case Report: Prenatal diagnosis of mosaic tetrasomy 21q confirmed by fluorescence in situ hybridization
- 1 April 1997
- journal article
- case report
- Published by Wiley in Clinical Genetics
- Vol. 51 (4) , 260-263
- https://doi.org/10.1111/j.1399-0004.1997.tb02466.x
Abstract
We describe the first case of a live-born neonate with mosaic tetrasomy 21q confirmed by fluorescence in situ hybridization (FISH). A 38-year-old Caucasian female presented for amniocentesis for maternal age. Initial chromosome analysis of the amniocytes using GTG-banding showed a mos47,XY, +?i(12p)/46,XY karyotype. Follow-up studies with FISH identified the isochromosome as an i(21q); mos47,XY, +i(21q)/46,XY. The patient was delivered at 38+ weeks gestation and umbilical cord blood samples were obtained. Chromosome analysis of 43 cord blood lymphocytes demonstrated a 46,XY karyotype in all cells. However, peripheral lymphocytes taken 1 day after birth showed 1 out of 120 lymphocytes to have an extra chromosome determined to be an i(21q). While initial clinical exam of the neonate revealed similarities to Down syndrome, long-term follow up of our patient will be required to provide the first definitive description of the mosaic tetrasomy 21 syndrome.Keywords
This publication has 10 references indexed in Scilit:
- Tetrasomy 12p (Pallister-Killian syndrome): Ultrasound indicators and confirmation by interphase fishPrenatal Diagnosis, 1994
- Prenatal diagnosis of tetrasomy 12p by in situ hybridization: Varying levels of mosaicism in different fetal tissuesPrenatal Diagnosis, 1992
- Prenatal diagnosis of Pallister–Killian syndrome: Resolution of cytogenetic ambiguity by use of fluorescent in situ hybridizationPrenatal Diagnosis, 1992
- Pallister‐killian syndrome: Characterization of the isochromosome 12p by fluorescent In Situ hybridizationAmerican Journal of Medical Genetics, 1991
- The characteristic physiognomy and tissue specific karyotype distribution in the Pallister‐Killian syndromeClinical Genetics, 1985
- Prenatal diagnosis of tetrasomy 21Prenatal Diagnosis, 1985
- Mosaic tetrasomy 21 is mosaic tetrasomy 12p some of the timeClinical Genetics, 1985
- Mosaic tetrasomy 21 in a male childClinical Genetics, 1984
- Tetrasomy 21 in an infant with down syndrome and congenital leukemiaAmerican Journal of Medical Genetics, 1982
- Mosaic tetrasomy 21 in a liveborn male infantClinical Genetics, 1982