FAQ - chromosome disorders
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Chromosome disorders?

what type of chromosom disorders are there? i no about down syndrome but r there any more?

cri-du-chat syndrome, wolf-hirschhone syndrome, turner syndrome, triple x syndrome, etc.  (+ info)

what is the best web site to look up chromosome disorders?

im looking for a very rare chromosome disorder, i have reports from the doc. and i need to know the best web site to look this up

One of the best places I can think of to look if you're looking for a sort of omnibus reference for all diseases is at the NCBI, in particular the "Online Mendelian Inheritance in Man" database which features a genetic map for a wide array of genetic diseases. The "Gene Map" lists them by their genetic location (i.e. what part of what chromosome) and the "Morbid Map" (sorry, but that's what they call it) organizes them by disease.

In general, the National Library of Medicine is an excellent place to look. They have everything from general health information for regular people to tools and literature databases for scientific researchers.  (+ info)

What are four disorders that are associated with chromosome 19 and what are their symptons?

Disco Fever.  (+ info)

Why are there so many more disorders associated with the X-chromosome than the Y- chromosome?

The X chromosome has about 2000 genes and the Y has about 78. The Y chromosome has been called a "crippled" chromosome. With so many genes on the X, there's more possibilities of containing mutated genes. Since the Y chromosome has no allele counterpart to a mutated gene on the X, males usually suffer a sex -linked disorder.  (+ info)

Chromosome 3 duplication disorders?

I am 6 months pregnant and found out that my daughter has a duplication on the tip of her 3rd chromosome, which has already caused a very severe heart defect called Ebstein's Anomaly. Does anyone have any information about disorders related to this?

Syndrome chromosome 3p duplication syndrome
Synonyms 3p+ syndrome
3p duplication syndrome
chromosome 3p trisomy
dup(3p) syndrome
duplication 3p syndrome
partial trisomy 3p
trisomy 3p
Summary Duplication of the short arm of chromosome 3 with severe delay in mental development, craniofacial dysmorphism, urogenital maldevelopment, and various occasional anomalies, including cardiac defects, cleft lip and palate, holoprosencephaly, dermatoglyphic findings, and other malformations.
Major Features Head and neck: Brachycephaly, holoprosencephaly, square face, frontal bossing, flat occiput, temporal indentations, micrognathia, facial clefts, and full cheeks.
Ears: Malformed auricles.
Eyes: Hypertelorism, iris coloboma, microphthalmia, telecanthus, bushy eyebrows, downslanting palpebral fissures, and cyclopia.
Nose: Short nose with broad and flat nose, prominent filtrum, choanal atresia, and epicanthal folds.
Mouth and oral structures: Large mouth, short upper lips, and cleft lip and palate.
Neck: Short neck.
Thorax: Accessory nipples.
Hand and foot: Short stubby hands and feet, camptodactyly, syndactyly, brachymesophalangy, and clubfoot. Excessive fingertip whorls are the dermatoglyphic findings.
Extremities: Joint contractures,
Spine: Hemivertebrae.
Muscles: Hypotonia.
Nervous system: Seizures.
Cardiovascular system: Congenital heart defects.
Gastrointestinal system: Esophageal atresia, common mesentery, and atresia of colon and rectum.
Urogenital system: Hypogonadism, hypospadias, micropenis, cryptorchidism, duplication of ureters, and kidney hypoplasia and cysts.
Biochemical and metabolic features: Hypercholesterolemia.
Temporal features: Nearly half of the affected infants die within the first 2 years of life.
Growth and development: Growth, motor, speech, and mental retardation.
Behavior and performance: Feeding difficulty.
Heredity: Duplications include dup(3)(pter-p25), dup(3)(pter-q11), dup(3)(pter-p23), and dup(3)(p25-pter). Most reported cases have resulted from paternal or maternal balanced translocation.  (+ info)

Are there any disorders having to do with chromosome 19?

yes, familial hemiplegic migraine, cerebellar ataxia, congenital nephrotic syndrome, retinitis pigmentosa to name a few. In fact there are hundreds, and probably more we don't know about yet.

Look here for starters, this should keep you busy:

http://www.ornl.gov/sci/techresources/Human_Genome/posters/chromosome/chromo19.shtml  (+ info)

What are some of the various chromosome disorders, other than Down Syndrome and sickle cell?

African American

Turners Syndrome

girls with only one x-chromosome  (+ info)

Describe two sex chromosome disorders.?

Describe two sex chromosome disorders.

Turner syndrome or Ullrich-Turner syndrome encompasses several conditions, of which monosomy X is most common. It is a chromosomal disorder affecting females in which all or part of one of the X chromosomes is absent. Occurring in 1 out of every 2500 girls, the syndrome manifests itself in a number of ways. There are characteristic physical abnormalities, such as short stature, lymphoedema, broad chest, low hairline, low-set ears, and webbed neck. Girls with TS typically experience gonadal dysfunction with subsequent amenorrhea and infertility. Concurrent health concerns are also frequently present, including congenital heart disease, hypothyroidism, ophthalmological problems, and otological concerns. Finally, a specific pattern of cognitive deficits is often observed, with particular difficulties in visuospatial, mathematic, and memory areas.

Klinefelter's syndrome, 47,XXY or XXY syndrome is a condition caused by a chromosome aneuploidy. Affected individuals have at least two X chromosomes and at least one Y chromosome.
The principal effects are development of small testicles and reduced fertility. A variety of other physical and behavioral differences and problems are common, though severity varies and many boys and men with the condition have few detectable symptoms. Named after Dr. Harry Klinefelter, an endocrinologist at Massachusetts General Hospital, Boston, Massachusetts, who first described it in 1942, it is the second most common disease involving the presence of an extra chromosome. The condition exists in roughly 1 out of every 500 males. Because of the extra chromosome, individuals with the condition are usually referred to as "XXY Males", or "47, XXY Males".  (+ info)

What chromosome is the genetic disorder Myofibrillar Myopathy on?

My father's mother has the disease, and I'm trying to figure out if it was passed to my Dad, my brother, and I. What chromosome is it on? Any other information is welcome, and if you know of a site where I can talk to a geneticist or other expert, please give me a link. Thanks!

It is inherited in an autosomal dominant manner, which mean your dad has a 50% chance to inherit it, and you have a 25% chance. As you dad gets older and lives through some of his risk, those chances go down. I great resource for genetic disorders is genetests.com. It can be hard to navigate if you're not used to it, so here's a link for you: http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=mfm
Without knowing more details, or what you do/don't understand, I can't give more info right now. If you have specific questions, feel free to email me.  (+ info)

What genetic disorder is caused by only having one chromosome 12?

my biology teacher gave us a blank karyotype sheet and a bunch of chromosomes to cut out and we have to figure out the disorder. when i cut and glued the pieces i found that there was a missing 12th chromosome, but i cant find the genetic disorder that this lack of chromosome 12 causes.

i want to say down syndrome but im not sure  (+ info)

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