Cytogenetic and molecular study of four couples with multiple trisomy 21 pregnancies

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منابع مشابه

Cytogenetic and molecular studies of trisomy 13.

Chromosome heteromorphisms, restriction fragment length polymorphisms, or both were used to study the parental origin of 33 cases of simple trisomy 13 and eight cases of translocation trisomy 13. The most common origin for the simple trisomies was non-disjunction at maternal meiosis I, while for the translocations an equal number of paternally and maternally derived cases was observed. In seven...

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The outcome of twin pregnancies discordant for trisomy 21.

The management of twin pregnancies discordant for trisomy 21 is dependent on the gestation at diagnosis, chorionicity, and parental preference. Our experience with the management of 15 cases in 1,839 twin pregnancies over a 12-year period is described. Selective termination is not always associated with a successful outcome for the normal co-twin. Two of the three monochorionic twin pregnancies...

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Prospective first-trimester screening for trisomy 21 in 30,564 pregnancies.

OBJECTIVE This study was undertaken to evaluate the performance of a 1-stop clinic for first-trimester assessment of risk (OSCAR) for trisomy 21 by a combination of maternal age, fetal nuchal translucency (NT) thickness, and maternal serum-free ss- human chorionic gonadotrophin (hCG) and pregnancy-associated plasma protein-A (PAPP-A). STUDY DESIGN OSCAR was carried out in 30,564 pregnancies a...

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Acquired Trisomy 21 - A Unique Cytogenetic Finding in T-Cell

Acute lymphoblastic leukemia (ALL), is a lymphoid neoplasm arising from lymphoid progenitors, broadly classified according to lineage into B-cell and T-cell ALL in which T-cell ALL constitutes a small proportion. We are reporting here a case of young female who was diagnosed as T-cell ALL using flow cytometry with acquired trisomy 21, identified on conventional cytogenetics, as a unique finding...

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Double trisomy in spontaneous miscarriages: cytogenetic and molecular approach.

BACKGROUND Although single trisomy is the most common chromosomal abnormality observed within first trimester spontaneous abortions (SA) (>50%), double trisomy (DT) ranges from 0.21 to 2.8% in the literature. Since little is known about mechanisms underlying DT, we report the results of our experience with 517 SA, establishing parental origin and cell stage of non-disjunction when possible in D...

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ژورنال

عنوان ژورنال: European Journal of Human Genetics

سال: 1998

ISSN: 1018-4813,1476-5438

DOI: 10.1038/sj.ejhg.5200178