Results 121 to 130 of about 5,849,237 (150)

Prenatal diagnosis of low level trisomy 15 mosaicism: review of the literature

Clinical Genetics, 1998
Low level chromosome mosaicism found at amniocentesis is problematic for clinicians and patients. We report prenatal diagnosis of a fetus with a rare karyotype of 47.XX, + 15/46, XX. Second trimester amniocentesis was performed for advanced maternal age. Fetal ultrasound revealed a hypoplastic right ventricle and intrauterine growth retardation (IUGR).
A L, Zaslav, S, Fallet, S, Brown, R, Ebert, A, Fleischer, E, Valderama, J E, Fox   +6 more
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Trisomy 15 mosaic derived from trisomic conceptus: Report of a case and a review

American Journal of Medical Genetics, 1996
We report on a fetus with 47,XX,+15 chromosome abnormality detected on chorionic villus sampling (CVS). The pregnancy was terminated at 15.5 weeks of gestation and chromosome analysis done on amniocytes and fetal tissues showed a karyotype 46,XX/47,XX,+15. Autopsy showed multiple abnormalities. Short-arm polymorphisms of the three number 15 chromosomes
V D, Markovic, D A, Chitayat, S M, Ritchie, B A, Chodakowski, E M, Hutton   +4 more
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Trisomy 15 mosaicism owing to familial reciprocal translocation t(1;15): implication for prenatal diagnosis

Prenatal Diagnosis, 2006
AbstractWe describe a 4‐year‐old female child with severe global mental retardation, myoclonic epilepsy, proximal hypotonia and dysmorphisms, whose prenatal diagnosis following amniocentesis revealed a constitutional female karyotype carrying a t(1;15)(q10;p11) familial reciprocal translocation.
PRONTERA, Paolo, BULDRINI B, AIELLO, Vincenzo, GRUPPIONI R, BONFATTI A, VENTI G, FERLINI, Alessandra, SENSI, Alberto, CALZOLARI, Elisa, DONTI E.   +9 more
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True trisomy 15 mosaicism, detected by amniocentesis at 12 weeks of gestation and fetal echocardiography

Prenatal Diagnosis, 1994
AbstractA case of mosaicism of trisomy 15, with two‐thirds of the cells trisomic, was detected at 12 weeks of gestation in amniotic fluid cell cultures obtained with the filtration technique. Ultrasound examination at 13 weeks showed a nodule protruding into the amniotic cavity which was speculated to be remnants of a co‐twin, causing the trisomic cell
K, Sundberg, V, Brocks, J R, Jacobsen, B, Beck   +3 more
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Severe intrauterine growth restriction and trisomy 15 confined placental mosaicism: a case report and review of literature.

Prenatal diagnosis, 2005
To correlate confined placental mosaicism (CPM) for trisomy 15 with severe intrauterine growth restriction (IUGR) and early death after birth (age of 6 months).Chromosome analysis was performed on amniotic fluid at 21st week of gestation, on peripheral blood at birth and on fibroblasts at death using conventional techniques.
REDAELLI, SERENA, Sala, E, Roncaglia, N, Colombo, C, Crosti, F, Villa, N, Tagliabue, P, Cappellini, A, DALPRA', LEDA   +8 more
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Low-level mosaicism for both trisomy 15 and monosomy-X in amniotic fluid cells confirmed in fetal tissues

Prenatal Diagnosis, 1998
We report here a case of true fetal mosaicism for both trisomy 15 and monosomy-X; the aberrant cell lines were initially detected at amniocentesis as low-level mosaicism (trisomy 15) and multiple-cell pseudo-mosaicism (monosomy-X). In the fetal lymphocytes, only metaphases with a normal chromosome complement were observed.
Hansson, K., Poelma, W. M., Zondervan, H. A., Leschot, N. J.   +3 more
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A specific phenotype associated with trisomy 15 mosaicism.

Annales de genetique, 1993
In this report the authors describe the phenotype of a female newborn with trisomy 15 mosaicism and double aneuploidy (47, XX, +15/47, XXX). Comparison with the two other patients with trisomy 15 mosaicism reported up to now, reveals a distinct phenotype with typical craniofacial dysmorphism, severe hypotonia and general symptoms and signs compatible ...
J P, Fryns, A, Kleczkowska, L, Lagae, H, Kenis, H, van den Berghe   +4 more
openaire   +1 more source

Mosaic trisomy 15 and prenatal genetic counselling: a case of Prader-Willi syndrome due to maternal uniparental disomy

Case Reports in Perinatal Medicine, 2019
Abstract Background Chromosome abnormalities are a frequent finding in prenatal invasive testing for fetal malformations and/or growth retardation. Case presentation We present a case of low level (8%) mosaic trisomy ...
Mar Velilla Aparicio, Veronica Seidel, Maria Asunción Orera Clemente, Sylvia Marina Caballero, Manuel Sánchez Luna   +4 more
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A CASE OF CONFINED PLACENTAL MOSAICISM WITH TRISOMY 15 ASSOCIATED WITH TURNER SYNDROME.

Genetic counseling (Geneva, Switzerland), 2018
We here present a rare case of a Turner syndrome with mosaic trisomy 15 identified on chorionic villous sampling (CVS). Although there are several reports in the literature indicating confined placental mosaicism (CPM), counseling parents of a fetus with trisomy 15 mosaicism at CVS remains difficult because of the phenotypic variability.
C, Ekici, Y, Sahin, K O, Yaykasli, R, Melekoglu, N, Sahin, S, Yuksel   +5 more
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eP080: A rare case of mosaic trisomy 15 with chylothorax

Genetics in Medicine, 2022
Lauren Bartik, Shivarajan Amudhavalli, Elena Repnikova   +2 more
openaire   +1 more source