His area of principal interest was outlined in red. The clinical features included cleft lip and palate, preauricular pits, low set malpositioned auricles, antimongoloid slant of the eyes, microcephaly, micrognathia, congenital heart disease, hypertrophic pyloric stenosis, cryptorchidism, and abnormal dermatoglyphics. The problem was that the mhc was only a small portion of the short arm of chromosome 6. In this research facility, the scientist are expierimenting with the extraction of the short arm of chromosome six. Two copies of chromosome 6, one copy inherited from each parent. Atr16 syndrome is caused by the loss or deletion of genetic material affecting multiple genes that are next to adjacent to one another on chromosome 16, specifically from band. Affected individuals have wideset eyes, a small head and jaw and are moderately to severely mentally retarded and very short.
In short, we know basically as much about katys condition as her doctors do. Each chromosome has a short arm designated as p, a long arm identified by the letter q, and a narrowed region at which the two arms are joined centromere. Chromosome 2p deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the short arm p of chromosome 2. The latter revealed a 20mb deletion in the long arm and a 5. Has anyone read the book chromosome 6 by robin cook. Fish analysis using a chromosome 11 short arm telomere probe 11p14. Structural aberrations of the y chromosome, such as ring y, iso or isodicentric for the short arm yp or large cytogenetically visible deletions of the long arm yq, are commonly associated with the occurrence of 45,xo cell lines due to a probable mitotic instability of the abnormal chromosome. I imagine some of the biotech firms are not happy about it. A chromosome 6 deletion is a rare disorder in which some of the genetic material that makes up one of the bodys 46 chromosomes specifically chromosome 6 in this case is missing. Chromosome 6 a medical thriller by cook, robin and a great selection of related books, art and collectibles available now at.
A case of deletion of the short arm of chromosome 3 46,xy,del3p253 is described. Chromosome 5 is one of the 23 pairs of chromosomes in humans. It has the short are stained, but not the long arm it has the cetromere and telomere stained, but not other parts it shows alternating patterns of dark and light regions it has the long arm stained, but not the short arm. In this chilling, medical thriller, cook takes on the ethical issues surrounding organ transplantation. The severity of the condition and the associated signs and symptoms vary based on the size and location of the. Interstitial deletion of the long arm of chromosome 3. Two copies of chromosome 6, one copy inherited from each parent, form one of the pairs.
Placed after the chromosome number, these symbols indicate gain or loss of a chromosome part, e. Chromosome 5 is the 5th largest human chromosome, yet has one of the lowest gene densities. Additionally, there was a gain in copy number on the long arm of chromosome 22, spanning at least 3. Chromosome 6 is one of the 23 pairs of chromosomes in humans. All human chromosomes have 2 arms, the p short arm and the q long arm.
The patient is a youth of 18 years in an institution for the mentally retarded. Phenotypically, he presents congenital heart disease, hypertelorism, ptosis, epicanthus, blepharophimosis, strabismus, nystagmus, synophrys, lowset ears, frequent infections, epilepsy abnormal eeg and grand mal seizures. Cytogenetic reports of soft tissue sarcomas in children, other than rhobdomyosurcomas, are rare. Choose from 500 different sets of chromosome 6 flashcards on quizlet. Robin cook blends fact with fiction in one of his most terrifying bestsellers. The dna sequence and analysis of human chromosome 6 nature. Interstitial deletions of the short arm of chromosome 6 are rare and have been associated with developmental delay, hypotonia, congenital. Deletion of short arm of chromosome 18, del18p syndrome. Chromosome 6 takes place in two totally different main settings. The severity of the condition and the signs and symptoms depend on the size. Chromosome 6, partial trisomy 6q nord national organization. I think that my fellow doctors get as much enjoyment out of reading my books as everyone else. This apparent association of congenital eye defects with distal del 6p was supported by comparison with patients having other deletions of chromosome 6, particularly those with ring chromosome 6. In the wee hours of the morning, penrose entered the room, wanting to know why the session had not yet ended.
Cri du chat syndrome is characterized as a rare genetic anomaly that occurs due to the random deletion of a part of chromosome 5, during the formation and. Definition of short arm of a chromosome medicinenet. Wolfhirschhorn syndrome, which is caused by partial deletion of the short arm of chromosome 4. I know a gentleman who runs such a firm he was in the middle of chromosome 6 and dismayed that i. Chromosome 6 is a prophetic thriller that challenges the medical ethics of genetic manipulation and cloning in the jungles of equatorial africa, where one mistake could bridge the gap between man and apeand forever change the genetic map of our existence.
I have been to a genetic doctor several times and so far there is no other known case reported with her chromosome duplication. Criduchat syndrome is caused by a deletion of the end of the short p arm of chromosome 5. A newborn male infant, whose karyotype was 46,xy,del10p is presented. We report on a patient with deficiency of distal 6p and compare the clinical and cytogenetic findings in this child with those of three previously reported patients who. Like most other chromosome disorders, this increases the risk of birth defects, developmental delay and learning difficulties.
The finished sequence comprises 166,880,988 base pairs, representing the largest chromosome sequenced so far. Which of the following statements is true about a chromosome that has been subjected to the g bending technique. It got me hooked on robin cooks books and i have now read all of his books. Features of the syndrome include midline defects with a scalp defect, widespaced eyes, broad or beaked nose, oral. About katy my little girls life with a rare chromosome. Atr16 syndrome nord national organization for rare. The deletion of the short arm of chromosome 18 is considered to be 1 of the most frequently occurring chromosomal aberrations, causing a minimal abnormality visible at birth. Long arm of chromosome 6 how is long arm of chromosome 6 abbreviated. The smallest chromosome contains around 50 million base pairs and the largers around 250 million base pairs dna in chromosomes may be as long as 50 millimeters if relaxed, but often packed into as little as 0. In total, we know of approximately 85 cases in the world right now of deletions anywhere on chromosome 6, with 75 percent of the cases existing on the long arm of the chromosome. Suspicion in recent years has focused on the hla, or human leukocyte antigen, genes carried on the short arm of chromosome 6. Chromosome 6 spans more than 170 million base pairs the building material of dna and represents between 5. The short arm of a human chromosome is symbolized by convention as p. Along the way he willingly risks the lives his main characters, as they race to discover the truths behind a series of seemingly unrelated mysteries.
Chromosome 6 is a metacentric chromosome that constitutes about 6% of the human genome. Detailed mapping of the region of common deletion on chromosome 3p will help to locate the site of candidate tumor suppressor genes involved in the pathogenesis of npc. Each chromosome has a short arm designated as p and a long arm identified by the letter q. Chromosomes are further subdivided into regions and bands that. Reusing the same characters as his first few books makes one feel like they are highly intelligent, crazy friends short on. Human depression is linked to genes the new york times. Different deletions contain different genetic information genes. It contains the major histocompatibility complex, which contains over 100 genes related to the immune response, and plays a vital role in organ transplantation. Chromosome xq duplication is a chromosome abnormality that affects many different parts of the body. Humans normally have 46 chromosomes in each cell, divided into 23 pairs. There were large blank areas that represented millions and millions of base pairs, and hence hundreds of other genes. The circadian clock, an internal timekeeping system, regulates various physiological processes through the generation of approximately 24 hour circadian rhythms in gene expression, which are translated into rhythms in metabolism and behavior. Interstitial duplication of the short arm of chromosome 2.
Gorman, marian malone, jon pritchard, and denise sheer abstract. Chromosome 6 ring nord national organization for rare. One chromosome has the normal length and the other is too short. I have spoken to him and he said this book, chromosome 6, is his favorite. There are so many possibilities, and the situation your. The following are some of the genes located on parm short arm of human chromosome 6. Detailed deletion mapping on the short arm of chromosome 3. Chromosome 5 spans about 181 million base pairs the building blocks of dna and represents almost 6% of the total dna in cells. The chromosomal basis of cri du chat syndrome consists of a deletion of the most terminal portion of the short arm of chromosome 5. There is a medical office in new york city, but there is also a medical research center, gensys, in the town of cogo, equatorial guinea, africa. Some people with a 6p deletion may not be obviously affected while others may have developmental and medical concerns. Originally described as a core component of the circadian clock. There are an estimated 4220 genes on chromosome 1, as.
It is one of the most fre quently occurring chromosomal aberrations with minimal abnormalities visible at birth, which become more apparent at the age of three years. Deletion of part of the short arm of chromosome 17 in a congenital fibrosarcoma patricia a. He divides his time among florida, new hampshire, and boston. Deletion of part of the short arm of chromosome 17 in a. Chromosome 1 is the largest of the 23 chromosomes, containing a greater number of nucleotides at its 85 loci than all other chromosomes. Chromosome 6 spans about 171 million dna building blocks base pairs and represents between 5.
Are there any websites with summaries for the book or can you give me a summary yourself. Long arm of chromosome 6 how is long arm of chromosome 6. The topic deletion of short arm of chromosome 5 syndrome you are seeking is a synonym, or alternative name, or is closely related to the medical condition cri du chat syndrome. Chromosome 6p deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the short arm p of chromosome 6. Sex chromosome mosaicism in males carrying y chromosome.
It contains the major histocompatibility complex, which contains over 100 genes related to the immune response, and plays a vital role in. Chromosome 6 spans more than 170 million base pairs and represents between 5. Chromosome 6 by robin cook abebooks shop for books. My 3 year old daughter was diagnosed with a rare chromosome abornormality of the 16th chromosome. We know of no doctors in the world currently doing research into this deletion. This syndrome, called the wolfhirschhorn syndrome, is a chromosome disorder due to partial deletion of the short p arm of chromosome 4. Distal del 6p appears to be associated with a relatively nonspecific phenotype, with the possible exception of unusual congenital eye findings. Chromosome 6 research research lines department of. I lost this book in a fire many years ago, and loved it so much, i bought it again. A human cell has one pair of identical chromosomes on chromosome 1.
The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Allelic loss on the short arm of chromosome 3 is one of the most consistent molecular genetic alterations observed in primary nasopharyngeal carcinoma npc. People with this condition have an extra copy of the genetic material located on the long arm q of the x chromosome in each cell. Chromosome 6q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm q of chromosome 6. Learn chromosome 6 with free interactive flashcards.
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