Klinefelter Syndrome
These findings indicate that extra copies of the long arm of X have phenotypic expression, even though activated only in early development.[ncbi.nlm.nih.gov]
arm of the X chromosome, which shares some features of classical Klinefelter syndrome in many aspects, but patients are usually shorter than average height and have normal[ncbi.nlm.nih.gov]
Although their physical characteristics can vary greatly, most are tall with long arms and legs.[msdmanuals.com]
Marfan Syndrome
, thin fingers and long arms and legs They may have a dislocation of the lens in the eye that also causes nearsightedness or myopia that can progress quickly They may have[web.archive.org]
He is extremely tall with a thin physique, a protruding chin and disproportionately long arms. Great attributes to be an Olympic swimmer.[raredr.com]
The gene defect also causes the long bones of the body to grow too much. People with this syndrome have tall height and long arms and legs.[nlm.nih.gov]
Multiple Endocrine Neoplasia Type 2B
Multipoint analysis of RFLPs at FNRB, D10Z1, RBP3, and D10S15 gave a peak lod score of 7.12 at the midpoint between D10Z1 and RBP3 on the long arm (band q11).[ncbi.nlm.nih.gov]
arm (band q11).[ncbi.nlm.nih.gov]
[…] additional results in three generations of a 15th family have disclosed a peak total lod score of 8.89 at the midpoint between the centromere markers D10Z1 and RBP3 on the long[ncbi.nlm.nih.gov]
Overeating
Velký lékařský slovník online, 2017 ) Scope Note An autosomal dominant disorder caused by deletion of the proximal long arm of the paternal chromosome 15 (15q11-q13) or by[medvik.cz]
Hold it in your hand and extend your arm. Loosen your fingers a little and notice your fingerprints on the glass.[tinybuddha.com]
You have held it inside your body for so long that it almost felt like it was part of you. But it is separate and you can let it go.[tinybuddha.com]
Hereditary Antithrombin Deficiency Type 2
The gene is located on the long arm of chromosome 1; it spans 13.5 kb and contains 7 exons.[symptoma.com]
Klinefelter Syndrome with XY/XXY Mosaic
arms, and in some instances will develop breast tissue.[indiana.edu]
[…] attention, mild dyslexia or dyspraxia, low energy levels, and difficulty socialising or expressing feelings in teenagers – growing taller than expected for the family (with long[nhs.uk]
A tall, thin body with disproportionately long arms and legs. Obesity - this may cause a thicker waistline but it is often partially disguised by wider-than-normal hips.[patient.info]
Persistent Polyclonal B-cell Lymphocytosis
FISH studies using a chromosome 3 long arm-specific probe provided evidence that all cases had both i(3)(q10) and 3.[ncbi.nlm.nih.gov]
An additional chromosome long arm i(3)(q10) has recently been reported as a recurrent cytogenetic aberration, contrasting with a usual polyclonal immunoglobulin expression[ncbi.nlm.nih.gov]
Abnormality of the B-cell population is also evidenced by the presence of multiple bcl-2/Ig gene rearrangements and the finding of an additional long arm chromosome 3q (i3[ncbi.nlm.nih.gov]
Partial Monosomy 18q
Engel : Partial E-18 long-arm deletion. Lancet 1968 I, 303. Google Scholar 10. Reinwein, H., L. Z. Corman u. U.[link.springer.com]
Abstract A patient with the physical stigmata associated with partial deletion of the long arms of one number 18 chromosome is described.[pediatrics.aappublications.org]
) q (long arm?)[mumsnet.com]
Jacobsen Syndrome
The karyotypes revealed de novo-deletions of the long arm of one chromosome 11,del(11)(q23).[ncbi.nlm.nih.gov]
Abstract Jacobsen syndrome is a haploinsufficiency disorder caused, most frequently by terminal deletion of part of the long arm of chromosome 11, with breakpoints in 11q23.3[ncbi.nlm.nih.gov]
Jump to navigation Jump to search Jacobsen syndrome is a multiple congenital anomaly/mental retardation (MCA/MR) contiguous gene syndrome caused by partial deletion of the long[wikidata.org]
Eunuchism
See Also: eumelanin Eumenes I Eumenes II Eumenides Eumetazoa eumetazoan Eumycota Eunice Eunomia eunuch eunuchism eunuchize eunuchoid eunuchoidism euonymus eupatorium eupatrid Eupen and Malmédy eupepsia euphemism euphemize Settings: Click on word: gets translation does nothing Recent searches: Save history View[…][wordreference.com]