Partial Trisomies and Deletions of Chromosome 13
نویسندگان
چکیده
منابع مشابه
Molecular Study of Partial Deletions of AZFc Region of the Y Chromosome in Infertile Men
Background & Aims: The most significant cause of infertility in men is the genetic deletion in the azoospermia factor (AZF) region that is caused by the process of intra- and inter-chromosomal homologous recombination in amplicons. Homologous recombination could also result in partial deletions in AZF region. The aim of this research was to determine the association between the partial AZFc del...
متن کاملMyelination in children with partial deletions of chromosome 18q.
BACKGROUND AND PURPOSE We compared myelin levels in white matter (WM) in typically developing children with those of children with partial deletions of chromosome 18q (18q-). METHODS Conventional spin-echo MR imaging at 1.9T was used to acquire T1-, T2-, and proton density-weighted images of the brain. From these images, a three-pool model was used to estimate the fraction of water in myelin,...
متن کاملComplete or partial homozygosity of chromosome 13 in primary retinoblastoma.
Sixteen retinoblastomas were examined with chromosome 13 polymorphic probes to determine the frequency of homozygosity for the chromosome in the tumors. Each of the tumors had two cytogenetically normal appearing No. 13 chromosomes. Nontumorous cells from the same patients were heterozygous for the various polymorphic chromosome 13 probes used. At least partial homozygosity for a single chromos...
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Disease name and synonyms Diagnosis criteria / definition Differential diagnosis Frequency Clinical description Molecular characterization Management References
متن کاملKleeblattschädel anomaly and partial trisomy for chromosome 13 (47,XY,+der(13),t(3,13)(q24; q14).
This paper reports a case of partial trisomy involving the proximal segment of the long arm of chromosome 13. Kleeblattschädel anomaly was one of the many anomalies found in conjunction with this syndrome. The cytogenetic classification of the extra partial chromosome was based on trypsin-giemsa banding patterns and a paternal translocation involving chromosomes 3 and 13.
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ژورنال
عنوان ژورنال: Pediatric Research
سال: 1978
ISSN: 0031-3998,1530-0447
DOI: 10.1203/00006450-197810000-00025