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mosaic turner s syndrome

A 54-year-old member asked:
Dr. Henry Garcia
8 years experience in Obstetrics and Gynecology
Turner syndrome: Turners syndrome is one of the most common reasons for premature ovarian failure. Many turner syndrome patients will never menstrate because of rapid ... Read More
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A 43-year-old member asked:
Dr. David Galbraith
47 years experience in Pediatrics
A little complex: Classic turner syndrome is a female who is missing 1 of the 2 x chromosomes, designated as 46x. A normal female has 2 x chromosomes (46xx). Most turne ... Read More
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A 37-year-old member asked:
Dr. James Ferguson
45 years experience in Pediatrics
Two cell lines: Regular turner syndrome arises when the drop out of one "x" sex chromosome occurs before or at conception, then all babies cells would have xo turner. ... Read More
A 43-year-old member asked:
Dr. Vered Lewy-Weiss
27 years experience in Pediatrics
Variation of Theme: Most females have 2 x chromosomes as part of their genetic make-up in all cells. In classic ts females are born with 1 x chromosome in most or all cel ... Read More
A 49-year-old member asked:
Dr. James Ferguson
45 years experience in Pediatrics
45 X/0 Pattern: At conception, one half of a set of 46 (23pairs) chromosomes (cms) is brought from egg & sperm.If the combination is missing one x of the sex cms, a f ... Read More
A 38-year-old member asked:
Dr. Yash Khanna
56 years experience in Family Medicine
Turners Syndrome: Turner syndrome is caused in females when there is absence of one xchromosime, the girls are born with one x chromosome and the features are.Short sta ... Read More
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A 48-year-old member asked:
Dr. Gurmukh Singh
48 years experience in Pathology
Yes: Presence of more than one x chromosome with one y chromosome is klinefelter syndrome.
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A 59-year-old female asked:
Dr. Luis Escobar
35 years experience in Clinical Genetics
Neither: Turner syndrome is not usually consider dominant or recessive. In Turner syndrome the affected individual is missing on sex chromosome. They only ha ... Read More
A 39-year-old member asked:
Dr. William Singer
50 years experience in Pediatric Neurology
Asperger's disorder: There is no consistent chromosomal abnormality associated with asperger's disorder, either for males or females.
A 29-year-old male asked:
Dr. Kerrie Pinkney
26 years experience in Palliative Care
It is a genetic synd: It is a genetic syndrome. There's a bout a 3% chance the child will pass it on and less than a 1% chance it would occur in a sibling of this child of ... Read More
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A 37-year-old member asked:
Dr. Tanya Russo
24 years experience in Pediatrics
Kabuki syndrome: is a genetically inherited disorder. Here is a link for more information, resources and support: http://ghr.nlm.nih.gov/condition/kabuki-syndrome
A 22-year-old female asked:
Dr. Eric Goldstein
21 years experience in Pediatrics
Klinefelter: Klinefelters is a genetic disease caused by what is called "nondisjunction". Every male inherits an x chromosome from their mother and a y chromosome ... Read More
A 46-year-old member asked:
Dr. Will Moorehead
51 years experience in Orthopedic Spine Surgery
Compressed iliac vei: May- thurner syndrome classically refer to a compression of the left common iliac vein by the iliac artery . This result in left leg pain, swelling an ... Read More
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A 44-year-old member asked:
Dr. Robert Kwok
32 years experience in Pediatrics
No: Klinefelter syndrome is a group of features seen in some males with an extra x chromosome (they are xxy). A klinefelter syndrome male tends to be tall ... Read More
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A 51-year-old member asked:
Dr. Vered Lewy-Weiss
27 years experience in Pediatrics
Yes: Most females are born with 2 x chromosomes. Ts is a disorder resulting from missing one x chromosome or some part of it in the cells of the body. It ... Read More
A 40-year-old member asked:
Dr. James Ferguson
45 years experience in Pediatrics
Xxy: as above
A 38-year-old member asked:
Dr. Maulik Shah
23 years experience in Clinical Genetics
Crouzon: Crouzon craniofacial dysostosis was described by crouzon in 1912. The genetic cause was not identified until 1994 and the credit goes to a number of ... Read More
A 43-year-old member asked:
Dr. Betty Keller
34 years experience in Rheumatology
Yes: Yes it is a mutation in the fbn1 gene on chromosome 15. This gene is responsible for providing the instructions for making a protien called fibrillin ... Read More
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A 42-year-old member asked:
Dr. Marilynn Frederiksen
46 years experience in Maternal-Fetal Medicine
Turner's Syndrome: The prognosis for turner's syndrome diagnosed at birth is usually good. They will be short. They have streaked gonads. They can have a webbed neck. Th ... Read More
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A 41-year-old member asked:
Dr. Nikolaos Zacharias
25 years experience in Maternal-Fetal Medicine
Various.: Zellweger syndrome is a genetically heterogeneous disorder and can be caused by mutation in any one of several genes involved in peroxisome biogenesis ... Read More
A 42-year-old member asked:
Dr. Danae Steele
30 years experience in Maternal-Fetal Medicine
Trisomy 13: Patau syndrome is also called trisomy 13. It occurs when a baby has 3 copies of the number 13 chromosome instead of the usual 2 copies. It causes se ... Read More
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A 44-year-old member asked:
Dr. Golder Wilson
Specializes in Clinical Genetics
Yes and no: Prader-willi syndrome involves early low tone with later overeating and obesity since the person is never full. It is genetic, with ~70% of cases havi ... Read More
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