Cytogenetic and molecular studies of trisomy 13.
نویسندگان
چکیده
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...
متن کاملDouble 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...
متن کاملImpact of cytogenetic and molecular cytogenetic studies on hematologic malignancies.
Conventional cytogenetic analysis of chromosome abnormalities in hematologic malignancies is hampered by the low mitotic index and poor quality of metaphases. A range of techniques based on fluorescence in situ hybridization (FISH) has greatly enhanced the identification of non-random translocations and deletions, pinpointing regions which contain genes involved in leukemogenesis. One of the ma...
متن کاملMolecular and cytogenetic characterisation of an unusual case of partial trisomy/partial monosomy 13 mosaicism: 46,XX,r(13)(p11q14)/46,XX,der(13)t(13;13)(q10;q14).
A female infant with multiple malformations and mental retardation was noted to have a rare de novo chromosome abnormality involving mosaicism with two cell lines, one with a ring chromosome 13, and the other with partial trisomy 13 owing to a complex rearrangement. Cytogenetic examination excluded the presence of a t(13q;13q) cell line and showed a cell line with a marker chromosome containing...
متن کاملpostnatal studies of bats (pipistrellus kuhlii and miniopterus schreibersii) & histomorphology and histochemistry studies of organs and diseases of (neurergus microspilotus and n. kaiseri)
1. to determine whether difference in birth body mass influenced growth performance in pipistrellus kuhlii we studied a total of 12 captive-born neonates. bats were assigned to two body mass groups: light birth body mass (lbw: 0.89 ± 0.05, n=8) and heavy birth body mass (hbw: 1.35 ± 0.08, n=4). heavier body mass at birth was associated with rapid postnatal growth (body mass and forearm length) ...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 1987
ISSN: 1468-6244
DOI: 10.1136/jmg.24.12.725