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  • syndrome
  • Over the years, Dr. Emanuel's group at the Children's Hospital of Philadelphia worked very hard to establish the fact that 25% of patients with DiGeorge syndrome had a visible deletion of material on chromosome 22 when they looked under the microscope. (upenn.edu)
  • In 1991, Deborah Driscoll, M.D., a member of Dr. Emanuel's laboratory group, detected a submicroscopic deletion of chromosome 22q11.2 in the majority of patients with DiGeorge syndrome using special 'molecular' tests. (upenn.edu)
  • found
  • Researchers at the Howard Hughes Medical Institute have found that the X and Y chromosomes evolved from a standard identical pair around 300 million years ago - shortly after the divergence of the evolutionary lines leading to mammals and birds. (abc.net.au)
  • The chromosomes are found in every cell in the body. (upenn.edu)
  • 1999
  • Such disruption can generally be accomplished by introduction of a heterozygous rearrangement that disrupts pairing in the relevant region but has no position effect of its own on the phenotype" (cited by Ting Wu and Jim Morris 1999). (wikipedia.org)
  • mammalian
  • The application of these concepts to the study of the ultrastructure of mammalian sex chromosomes allowed the establishment of a structural and behavioural pattern (especially through the extensive work performed by Solari). (springer.com)
  • The giemsa G-banding technique is commonly used to identify mammalian chromosomes, utilizing the technology on plant cells was difficult due to the high degree of chromosome compaction in plant cells. (wikipedia.org)
  • alleles
  • In both him-8 alleles, pairing of the X chromosome probes did not rise above the baseline levels observed in the premeiotic region (zone 1), whereas Chromosome V association rates and dynamics were very similar to what we observed in wild-type hermaphrodites. (nih.gov)
  • Transvection can sometimes be restored in a translocation homozygote, where both alleles may once again be able to pair. (wikipedia.org)
  • synapsis
  • Once they've identified each other at some place, they'll begin the process we call synapsis, which involves building this beautiful structure - the synaptonemal complex - and using it to form an intimate association that runs the entire length of each pair of chromosomes," Hawley explains. (medicalnewstoday.com)
  • HIM-8 binds to the X chromosome pairing center and mediates chromosome-specific meiotic synapsis. (nih.gov)
  • Here we show that loss of him-8 function causes profound X chromosome-specific defects in homolog pairing and synapsis. (nih.gov)
  • Surprisingly, a point mutation in him-8 that retains both chromosome binding and NE localization fails to stabilize pairing or promote synapsis. (nih.gov)
  • wheat
  • In the absence of the Ph1 locus chromosome specificity has been suppressed in this project, allowing inter-specific chromosome associations between wheat and H. chilense for the first time. (csic.es)
  • occurs
  • We discuss an alternative based on two observations: transcription occurs in factories that specialize in transcribing specific gene sub-sets, and chromosomes only pair when transcribed. (ox.ac.uk)
  • traits
  • Human chromosomes are typically distributed equally during reproduction, causing the children to be born with traits inherited from both the mother and father. (reference.com)
  • recombinational repair
  • Divergence in 1,000-bp windows varies along an alignment of a colinear pair, from zero to as much as 20% in a pattern consistent with gene conversion associated with recombinational repair of DNA double-strand breaks. (pnas.org)
  • sexually
  • Although pairs of colinear chromosomes are a characteristic of sexually reproducing diploids and polyploids, a quite different explanation for their presence in bdelloids is suggested by the recent finding that bdelloid rotifers can recover and resume reproduction after suffering hundreds of radiation-induced DNA double-strand breaks per oocyte nucleus. (pnas.org)
  • This is because the lizards start off with twice the amount of chromosomes as would be found in sexually reproducing individuals. (wikipedia.org)
  • XY chromosome pair) to develop sexually as a female due to an inability to utilize androgen. (wikipedia.org)
  • deletion
  • Especially due to the deletion and duplication process, the chromosomes that come together in a new cell may be shorter or longer. (wikipedia.org)
  • Because of the deletion and duplication process, the chromosomes that come together in a new cell may be shorter or longer. (wikipedia.org)
  • lengths
  • DNA that was replicated in interphase is condensed from molecules with lengths reaching 4 cm to chromosomes that are measured in micrograms. (wikipedia.org)
  • nuclear envelope
  • These organisms gather all the chromosome ends against the nuclear envelope into one big cluster called a bouquet or into a bunch of smaller clusters called aggregates, and this brings the chromosome ends into proximity with each other," Hawley says. (medicalnewstoday.com)
  • zones
  • A) Diagram of a hermaphrodite gonad, indicating the five zones in which the pairing of FISH signals was scored. (nih.gov)
  • copies
  • We have sequenced 45- to 70-kb regions surrounding the four copies of the hsp82 gene of the bdelloid rotifer Philodina roseola , each of which is on a separate chromosome. (pnas.org)
  • different
  • Due to the CNV chromosomes of different sizes can be combined in a new cell. (wikipedia.org)
  • 2. a parent is unknowingly carrier of a chromosome with a copy number variation and passes it through at conception to the child, with different consequences for the child. (wikipedia.org)
  • sterility
  • citation needed] Experiments involving crosses between D. pseudoananassae and D. bipectinata, D. pseudoananassae and D. parabipectinata, and D. pseudoananassae and D. malerkotliana have further shown that the Y chromosome has a role in hybrid male sterility. (wikipedia.org)
  • gene
  • However, they named this gene odd Oz (Odz) after the oddless pair-rule phenotype displayed in Odz mutant embryos, where every odd-numbered body segment was deleted. (wikipedia.org)
  • As promoters are typically immediately adjacent to the gene in question, positions in the promoter are designated relative to the transcriptional start site, where transcription of DNA begins for a particular gene (i.e., positions upstream are negative numbers counting back from -1, for example -100 is a position 100 base pairs upstream). (wikipedia.org)
  • The gene for TTC39B is located on the short arm of the ninth chromosome at 9p22.3. (wikipedia.org)
  • It is a genetic disorder caused by the mutation of the ESCO2 gene on 8th chromosome. (wikipedia.org)
  • however, mildly affected individuals may survive to adulthood ESCO2, located on human chromosome 8, has been labeled as the gene responsible for Roberts syndrome. (wikipedia.org)
  • The following are some of the gene count estimates of human chromosome 7. (wikipedia.org)
  • Supernumerary ring chromosome 7 mosaicism: case report, investigation of the gene content, and delineation of the phenotype" (PDF). (wikipedia.org)
  • The human LECT2 gene, ALECT2, is located on the long, i.e, "q", arm of chromosome 5 at position q31.1 (notated as 5q31.1). (wikipedia.org)
  • segment
  • These changes include an extra copy of part of chromosome 7 in each cell (partial trisomy 7) or a missing segment of the chromosome in each cell (partial monosomy 7). (wikipedia.org)
  • SINEs have 50-500 base pair internal regions which contain a tRNA-derived segment with A and B boxes that serve as an internal promoter for RNA polymerase III. (wikipedia.org)
  • cell
  • In normal cell division, each chromosome is copied and then attached to its newly formed copy at the centromere (the center portion of a chromosome). (wikipedia.org)
  • As a result, the chromosomes do not get lined up properly, which causes the cell to divide very slowly or even to not divide at all. (wikipedia.org)
  • As a result, it is speculated that thalidomide affects chromosomes and cell division in a similar manner to ESCO2. (wikipedia.org)
  • structure
  • The importance of an antiparallel DNA double helix structure is because of its hydrogen bonding between the complimentary nitrogenous base pairs. (wikipedia.org)
  • Other changes in the number or structure of chromosome 7 can cause delayed growth and development, mental disorder, characteristic facial features, skeletal abnormalities, delayed speech, and other medical problems. (wikipedia.org)
  • regions
  • These 440 base pairs are then compared to the control regions of other individuals (either specific people or subjects in a database) to determine maternal lineage. (wikipedia.org)
  • results
  • Hence, please do not supply other quantities, such as (rounded) normalized counts, or counts of covered base pairs - this will only lead to nonsensical results. (bioconductor.org)
  • shown
  • Several studies concentrated on Silene latifolia have shown a correlation between loci on the Y chromosome and the sex that is expressed phenotypically in the flower. (wikipedia.org)