Possible Causes for long arm 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] 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] 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] 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] 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] Partial deletion of the long arm of chromosome 18. [link.springer.com] Syndrome associated with a deficiency of part of the long arm of chromosome no. 18. Arch Dis Child. 1967 Apr;42(222):140–146. [ncbi.nlm.nih.gov] 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 An exact parallel to the gelding referred to above can be found in the eunuch of the Orient. "The Biology, Physiology and Sociology of Reproduction" by Winfield S. Hall I have attendants for my harem, eunuchs enough to make an army. "The Temptation of St. Antony" by Gustave Flaubert Why, they travel abroad now[…] [finedictionary.com] Monosomy 21q Overview Chromosome 21, monosomy 21q22: A rare chromosomal disorder where a portion of the long arm of chromosome 21 is deleted. [checkorphan.org] mirror) translocations of all or part of the long arm of the chromosome. [publications.fondationlejeune.org] Causes Chromosome 4, Monosomy 4q is caused by a partial deletion of the long arm of chromosome 4. [rarediseases.org] Chromosome 18p Deletion Syndrome q (long arm?) [mumsnet.com] arm of chromosome 13 Deletion of long arm of chromosome 18 Deletion of part of autosome Deletion of short arm of chromosome 18 Deletion of X-chromosome and hypogammaglobulinemia [icd9data.com] […] normal centramere but no extra long arm the two deleted ends of the short arms so all in all out of the known disorders out there he dosn't fit into any one mold he dosn't [circleofmoms.com] Ring Chromosome 15 The long arm of the defective chromosome is broken at band q24 or q25. [ncbi.nlm.nih.gov] The ring chromosome lacked the short arms of the two translocated chromosomes 15 and was duplicated for a portion of the long arms near the centromere, probably cen leads [ncbi.nlm.nih.gov] arm of chromosome 15. [ncbi.nlm.nih.gov] Ring Chromosome 1 In 5 cases, the patients had a non-supernumerary ring chromosome 1 resulting in partial monosomies of the short and/or long arm of chromosome 1. [ncbi.nlm.nih.gov] Abstract We report on three cases with a cytogenetically identical ring chromosome containing euchromatin from the long arm of chromosome 1 (r[1][::p11.1-- q21.1::]). [ncbi.nlm.nih.gov] No loss of chromosomal material in the ring; FISH revealed that both the short-arm and long-arm specific subtelomeric regions for 11p and 11q were preserved in the RC and [edmcasereports.com] Common Cold The NF1 gene is a megagene (length of app. 350 kilobases of genomic DNA), localised on the long arm of the 17th chromosome at the position 17q11.2. [lijecnicki-vjesnik.hlz.hr] Ring Chromosome 13 The more severely affected patient showed a break point at band 13q32 in the long arm of the ring, whereas in the less severely affected the loss of material during ring formation [ncbi.nlm.nih.gov] These findings yielded different breaking points on the ends of both the short and long arms of chromosome 13 from those reported in the literature. [ncbi.nlm.nih.gov] We suggest that the ring is derived from the translocation chromosome by breaks in both long arms and subsequent reunion, r(13) (q12q14). [ncbi.nlm.nih.gov] Ring Chromosome 21 Molecular cloning and chromosomal localization of the DNA regions flanking the ring junction provide evidence for a long arm to long arm fusion in formation of the r(21). [ncbi.nlm.nih.gov] arm to long arm fusion that contains alpha-satellite DNA and two copies of the D21S65 locus, but lacks beta-satellite DNA and telomeric DNA. [ncbi.nlm.nih.gov] These data were consistent with the breakage and reunion of short- and long-arm regions to form the r(21), resulting in deletion of varying amounts of 21q22.1 to 21qter. [ncbi.nlm.nih.gov] Ring Chromosome 18 Ring chromosome 18 syndrome is a chromosomal abnormality in which partial deletions occur at both ends of chromosome 18, that is, distally on the short and long arms. [ncbi.nlm.nih.gov] Partial deletion of genetic material from the long arm of chromosome 18 results in a syndrome with multisystemic involvement, including dysmorphic features, intellectual disability [ncbi.nlm.nih.gov] Phenotypic and clinical features of individuals with ring chromosome 18 [r(18)] vary with the extent of deletion of the short (18p-) or long arm (18q-). [ncbi.nlm.nih.gov] Congenital Bile Acid Synthesis Defect Type 2 The AKR1D1 gene, located on the long arm of chromosome 7 (7q32-q33), encoding an enzyme called 4-3-oxo-5-? steroid dehydrogenase, found in liver cells. [ivami.com] Each chromosome has a short arm designated “p” and a long arm designated “q”. Chromosomes are further sub-divided into many bands that are numbered. [rarediseases.org] Bile acid CoA ligase deficiency is caused by mutations in the SLC27A5 gene located on the long arm of chromosome 19 (19q13.43). [rarediseases.org] Partial Trisomy 8q Syndrome […] the short arm of chromosome 8, it is concluded that trisomy of the proximal part of the long arm of chromosome 8 causes most of the clinical findings of trisomy 8 mosaicism [ncbi.nlm.nih.gov] We present a case of a fetus mosaic for trisomy of the entire long arm (q) of chromosome 8 without additional chromosomal aberrations. [ncbi.nlm.nih.gov] Arm of Chromosome 8: Case Report and Review of the Literature. [scitechnol.com] Multiple Self-Healing Squamous Epithelioma Mapping of the gene for multiple self healing squamous epithelioma to the long arm of chromosome 9 Journal of Medical Genetics 28(8): 551 1991 (PDF emailed within 1 workday [eurekamag.com] Inherited permissive variants at TGFBR1 and a second, as yet unidentified, linked locus on the long arm of chromosome 9 appear to be required for tumor development. 90% of [orpha.net] 29.90) Accession: 032249257 Download citation: RIS BibTeX Text Localisation of the gene for multiple self healing squamous epithelioma ferguson smith type to the long arm [eurekamag.com] Congenital Malformation Syndromes Involving Early Overgrowth Amniocentesis revealed a derivative chromosome 15, or der(15), with additional material at the end of the long arm of one chromosome 15. Parental karyotypes were normal. [tmu.pure.elsevier.com] Chromosome analysis of the mother showed a reciprocal balanced translocation between long arms of chromosome 6 and 15, t (6;15)(q26;q22). [pubfacts.com] Each chromosome has a short arm designated as "p" and a long arm identified by the letter "q". Chromosomes are further subdivided into bands that are numbered. [rarediseases.org] Ring Chromosome 10 arm) of chromosome 22. [icd.codes] Am J Med Genet 123A:201–203 PubMed CrossRef Google Scholar Courtens W, Wuyts W, Rooms L, Pera SB, Wauters J (2006) A subterminal deletion of the long arm of chromosome 10: [link.springer.com] […] code 22q13 deletion syndrome 22q13 deletion syndrome (spoken as twenty-two q one three) is a genetic disorder caused by deletions or rearrangements on the q terminal end (long [icd.codes] Ring Chromosome 22 The role of a putative tumor suppressor gene on the long arm of chromosome 22 in the pathogenesis of these tumors is also discussed. [ncbi.nlm.nih.gov] Chromosome 22 long arm deletions, as determined by hemizygosity for informative microsatellite markers, varied from (c) 2005 Wiley-Liss, Inc. [ncbi.nlm.nih.gov] A 1 Mb array CGH experiment on peripheral blood DNA showed a deletion of 5 terminal clones on the long arm of chromosome 22. [ncbi.nlm.nih.gov] Chromosome 19q13.11 Deletion Syndrome 1p36/19q13 Probe Set with ZyBlack Quenching Solution ZytoLight Glioma 1p/19q Probe Set Deletions affecting the short arm of chromosome 1 (1p36) and the long arm of chromosome [generon.co.uk] The 1p36.3 deletion together with the deletion of the long arm of chromosome 19 (19q13) are strongly correlated with gliomas with oligodendroglial morphology. [intellmed.eu] For example, “chromosome 22q11” refers to band 11 on the long arm of chromosome 22. [rarediseases.org] Ring Chromosome 11 Syndrome White matter changes associated with deletions of the long arm of chromosome 18 (18q- syndrome): a dysmyelinating disorder? [journals.sagepub.com] No loss of chromosomal material in the ring; FISH revealed that both the short-arm and long-arm specific subtelomeric regions for 11p and 11q were preserved in the RC and [edmcasereports.com] Each chromosomes has a p and q arm; p (petit) is the short arm and q (next letter in the alphabet) is the long arm. [justjamesinfo.wordpress.com] Bronchitis multi-center study evaluating the efficacy and safety of azithromycin for the long term prophylactic treatment of COPD in primary antibody deficiency patients with... [clinicaltrialsregister.eu] Nine of these did not include trial arms of monotreatment with inhaled corticosteroid and long‐acting beta 2 ‐agonist ( Della Cioppa 2001 ; Cazzola 2003 ; Barnes 2005 ; Gosman [dx.doi.org] 39 Sponsor Protocol Number: FARM8MXYFL Start Date*: 2011-10-28 Sponsor Name:AZIENDA UNIVERSITARIA POLICLINICO UMBERTO I DI ROMA Full Title: Phase II, randomized, double arm [clinicaltrialsregister.eu] Elbow Fracture Immobilise the elbow in a long arm posterior splint with the elbow at 90 . [patient.info] Type 2 injuries are sometimes treated in a long-arm cast, but these oftentimes require surgery. [bonetalks.com] Undisplaced fractures can be treated with a long arm posterior splint with the elbow at 90 . [patient.info] Acute Bronchitis Nine of these did not include trial arms of monotreatment with inhaled corticosteroid and long‐acting beta 2 ‐agonist ( Della Cioppa 2001 ; Cazzola 2003 ; Barnes 2005 ; Gosman [doi.org] We did not include trials comparing two or more antibiotics without a placebo arm. [doi.org] In these cases we calculated the variance of the difference between ICS and LABA using the variances of all the trial arms, see Appendix 1. [doi.org] Trisomy 18p FISH mapping, with multiple region specific and locus specific probes from the short and long arm of chromosome 18, showed that the structure of the dicentric chromosome 18 [ncbi.nlm.nih.gov] The fetus had a derivative chromosome 21 with an extra short arm of chromosome 18 attached to the terminal region of the long arm of chromosome 21. [ncbi.nlm.nih.gov] Cytogenetic studies of a premature, 1,680-g female infant with these clinical features showed this extra material to be part of the long arm of chromosome 3 (3q12 qter), which [jamanetwork.com] Humerus Fracture Primary stabilization of the fracture has been achieved by the application of a long-arm plaster cast. [ncbi.nlm.nih.gov] A long-arm cast was applied for postoperative immobilisation. [ncbi.nlm.nih.gov] Nondisplaced or minimally displaced flexion-type supracondylar humerus fractures can be treated with long arm casting. [ncbi.nlm.nih.gov]
