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Chromosome in Medical Dictionary

Chromosome

... chromosome inversion, paracentric: A basic type of chromosome rearrangement. chromosome s come in pairs. In humans, the nucleus of each ...

Chromosomes

... that one member of the couple is carrying a chromosome translocation responsible for the miscarriage ... size, shape, and structure are normal for each chromosome . Abnormal: ... An important question in our ... The loss or gain of whole chromosomes or chromosome regions is a condition referred to as ....

Down syndrome

... of Down syndrome cases occur due to an extra chromosome in the sperm cell . Down Syndrome ... Down syndrome Definition: Down syndrome is a chromosome abnormality, usually due to an extra copy of the 21st chromosome . This syndrome usually, although not always, ...

Fragile X syndrome

... handicap and is linked to a problem with the X chromosome . This article looks at some of the learning ... syndrome A genetic condition related to the X chromosome that affects mental, physical and sensory ... fragile X syndrome , in which a segment of the X chromosome (one of the chromosomes that determines ...

Genetic

... or traits is described by both the type of chromosome the abnormal gene resides on (autosomal or sex chromosome ), ... Genetic Screening Before or During ... announced they had found a site on human chromosome 13 that is responsible, at least in part, for ...

Genetics

... announced they had found a site on human chromosome 13 that is responsible, at least in part, for ... and Services ... Molecular Genetics of chromosome Stability Research Interest: Telomeres have been ... number of cellular processes including aging , chromosome stability, meiosis, replication timing, ... ...

Hemophilia

... on to children from a gene located on the X chromosome . Females have two X chromosomes , while males have one X and one Y chromosome . Hemophilia is a hereditary bleeding ... hemophilia , are usually carried on the X chromosome . A woman who carries a disease -associated ...

Klinefelter syndrome

... that occurs in men as a result of an extra X chromosome . The most common symptom is infertility . ... male characterized by having an extra X (female) chromosome and suffering from infertility and ... Klinefelter syndrome who have more than one X chromosome . Gynecomastia can also be caused by certain ...

Mental retardation

... neural tube defects (such as spina bifida ) chromosome abnormalities (such as Down syndrome ) cleft ... the family has had mental retardation or other chromosome problems. You have had stillbirth s or several ... A disorder caused by the presence of an extra chromosome 21 and characterized by mental retardation and ...

Prader

... disorder that results from disruption of chromosome 15. Symptoms include learning difficulties, ... , results when a baby inherits both copies of chromosome #15 from the mother. Babies born with PWS have ... -- are due to deletion of the same part of chromosome 15. Far less common than lifestyle issues are ...

Prader-Willi syndrome

... disorder that results from disruption of chromosome 15. Symptoms include learning difficulties, ... , results when a baby inherits both copies of chromosome #15 from the mother. Babies born with PWS have ... -- are due to deletion of the same part of chromosome 15. Far less common than lifestyle issues are ...

Retardation

... neural tube defects (such as spina bifida ) chromosome abnormalities (such as Down syndrome ) cleft ... family has had mental retardation or other chromosome problems. You have had stillbirth s or several ... A disorder caused by the presence of an extra chromosome 21 and characterized by mental retardation ...

Translocation

... Down syndrome refers to the rearranged chromosome material. There are three # 21 chromosomes , ... of the 21 chromosomes is attached to another chromosome , instead of being separate. Translocation , reciprocal: A type of chromosome rearrangement involving the exchange of ...

Trisomy

... and mental retardation due to the extra chromosome #13. Trisomy 13 can be diagnose d prenatal ly by amniocentesis with chromosome studies of the amniotic cells. Trisomy 13 ... , ... trisomy The presence of an extra chromosome in addition to the usual pair. Down syndrome ...

Trisomy 18

... and mental retardation due to the extra chromosome #18. Trisomy 18 Definition: Trisomy 18 is ... with the presence of a third (extra) number 18 chromosome . This rare genetic chromosomal disorder arises when a child is born with three copies of chromosome 18, rather than the usual two. It's also known ...

Turner syndrome

... syndrome , the girl's cells are missing an X chromosome , or part of an X chromosome . Turner syndrome - Turner syndrome is a ... , including one missing or incomplete X chromosome , instead of 46. High blood pressure , heart ...

Acute lymphocytic leukemia

... leukemia . All of these findings are secondary to trisomy (an extra chromosome ) of the 21st chromosome . Additional phase I/II trials have begun to evaluate the efficacy of ...

ADH

... sample of adolescent twins. The important genes involved in these chromosome losses are APC(5q), DCC/M ADH 2/M ADH 4(18q), and TP53(17p), [22,28] and chromosome losses are associated with instability at the molecular and chromosomal ...

Amniocentesis

... . All of these findings are secondary to trisomy (an extra chromosome ) of the 21st chromosome . Trisomy 21 can be detected in the first few months of pregnancy by ...

Atresia

... leukemia . All of these findings are secondary to trisomy (an extra chromosome ) of the 21st chromosome . In biliary atresia , the bile ducts are actually absent, also ...

Autosomal recessive

... inheritance means that the gene is located on one of the autosomes ( chromosome pairs 1 through 22). This means that males and females are equally ... gene , one copy from each parent. The gene is on an autosome, a nonsex chromosome . Autosomal recessive Definition: An abnormal gene on one of the ...

Conception

... at conception . The mother's egg cell ( ovum ) contains an X chromosome , while the father's sperm cell contains either an X or a Y chromosome . These X and Y chromosomes determine the child's genetic sex. An ...

DiGeorge Syndrome

... in 4,000 birth s. Most cases result from a deletion of a tiny part of chromosome 22 known as 22q11.2 (the DiGeorge syndrome chromosome region, or DGCR). DiGeorge syndrome is a childhood disease in ...

Esophageal atresia

... leukemia . All of these findings are secondary to trisomy (an extra chromosome ) of the 21st chromosome . Occasionally, early feeding problems are due to anatomical ...

Gene

... brushing your teeth ." ... A gene called Frataxin (FXN), located on chromosome 9, is involved. Changes in the gene result in many extra copies of a ... Huntington's disease is inherited as a single faulty gene on chromosome #4. There is a part of the gene that is repeated in multi ple copies. ...

Karyotyping

... an abnormality that can be passed on to a child. Determine whether a chromosome defect is preventing a woman from becoming pregnant or causing a pregnant ... Source: UPMC News Bureau - 12/25/97. K+ ( Potassium ) Karyotyping ( chromosome Analysis) Kidney Function Tests KUB (Abdominal X-Ray s) ... The ...

Ovum

... at conception . The mother's egg cell ( ovum ) contains an X chromosome , while the father's sperm cell contains either an X or a Y chromosome . These X and Y chromosomes determine the child's genetic sex. ...

Respiratory

... and carbon dioxide acidosis . Respiratory Tract Cancer with chromosome 15 Changes The respiratory tract includes the nose, throat, larynx , ... , and lungs . Respiratory tract cancer may be caused by a specific chromosome change. respiratory system (RES-pih-ra-tor-ee) The organ s that are ...

Rhabdomyosarcoma

... Rhabdomyosarcoma s usually have some type of chromosome abnormality in the cells of the tumor , which are responsible for the ... with an embryonal rhabdomyosarcoma , there is usually an abnormality of chromosome #11. Rhabdomyosarcoma : A malignant tumor that starts in muscle . ...

Syndrome

... and girls. Less than 25% of Down syndrome cases occur due to an extra chromosome in the sperm cell . This syndrome may be more common in women ... s that make up the body. ALDRICH SYNDROME - An sex-linked (x chromosome ) genetic disorder occurring in male children that is characterized by ...

Testicular feminization

... feminization is a syndrome in which a person has one X and one Y sex chromosome (making them genetic ally male), but is resistant to androgen s (male ... The syndrome is caused by various genetic mutation s on the X chromosome . The mutation s make a developing male baby unable to respond to ...

Trisomy 13

... have multi ple malformations and mental retardation due to the extra chromosome #13. Trisomy 13 can be diagnose d prenatal ly by amniocentesis with chromosome studies of the amniotic cells. Trisomy 13 mosaicism and partial ...

Tuberous sclerosis

... results from mutation of either one of two genes : the TSC1 gene on chromosome 9 or the TSC2 gene on chromosome 16. The TSC1 gene makes a protein c alled tuberin. Tuberous ...

Achondroplasia

... gene that causes abnormal cartilage formation. Autosomal dominant inheritance means that the gene is located on one of the autosomes ( chromosome pairs 1 through 22). Achondroplasia is caused by a genetic defect. It is a dominant trait, meaning that anybody with the genetic defect ...

Acoustic neuroma

... epileptiform aphasia Acquired immunity Acquired immunodeficiency syndrome Acquired mutation Acral-lentiginous melanoma Acrocentric chromosome ... Most people don't need any treatment but surgery may be necessary to remove some tumours (such as acoustic neuroma s or brain tumours) ...

Alkaptonuria

... to air. Another characteristic is the development of arthritis in adulthood. Overview, Causes, & Risk Factors ... Among the genes on chromosome 3 are the HGD gene for alkaptonuria , the BTD gene for biotinidase deficiency , the CPOX gene for hereditary copro porphyria , the MLH1 ...

Alpha

... them. Alpha thalassemia trait This condition is caused by defects on or the absence of two of the four alpha chains, either on the same chromosome ("cis" deletion) or one from each ("trans" deletion). Alpha blocker: A drug that blocks receptors in arteries and smooth muscle . This ...

Androgen

... antiandrogens. Androgen insensitivity syndrome Definition: Androgen insensitivity syndrome (AIS) is when a person has one X and one Y sex chromosome (making them genetic ally male), but is resistant to androgen s (male hormone s). ANDROGEN IC ALOPECIA - Hair loss in women that may be ...

Angelman Syndrome

... the characteristics of Angelman Syndrome ? Angelman syndrome is a chromosomal disorder caused by the absence of a gene . defects in the chromosome or chromosomal inheritance (for example, fragile X syndrome , Angelman syndrome , Prader-Willi syndrome ) ... ...

Anomaly

... . Some congenital heart defects, including Eb stein 's Anomaly , may have a genetic link, either occurring due to a defect in a gene , a chromosome abnormality, or environmental exposure, ... This anomaly is often associated with chordee, a downward curvature of the penis during erection. ...
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