Long Arm: Causes & Reasons

Possible Causes for Long Arm

Children who have Marfan syndrome are usually tall and thin, with long arms, long double-jointed fingers, a short torso and very long legs. [childrenshospital.org]

People with Marfan syndrome are usually tall and thin with disproportionately long arms, legs, fingers and toes. [mayoclinic.org]

Marfan syndrome features may include: Tall and slender build Disproportionately long arms, legs and fingers A breastbone that protrudes outward or dips inward A high, arched [mayoclinic.org]

Klinefelter Syndrome

Although their physical characteristics can vary greatly, most are tall with long arms and legs. [msdmanuals.com]

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]

Klinefelter Syndrome with XY/XXY Mosaic

arms, and in some instances will develop breast tissue. [indiana.edu]

They will likely grow taller, even much taller than is expected in their family, with long arms and legs and a short trunk. [fdna.health]

[…] 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]

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]

Partial Monosomy 18q

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]

Engel : Partial E-18 long-arm deletion. Lancet 1968 I, 303. Google Scholar 10. Reinwein, H., L. Z. Corman u. U. [link.springer.com]

Jacobsen Syndrome

The karyotypes revealed de novo-deletions of the long arm of one chromosome 11,del(11)(q23). [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]

Jacobsen syndrome (JS), also known as 11q-syndrome, is a congenital disorder associated with a deletion of the long arm of chromosome 11. [jhu.pure.elsevier.com]

Chromosome 18p Deletion Syndrome

Partial deletion of the long arm of chromosome 18. [link.springer.com]

q (long arm?) [mumsnet.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]

Monosomy 21q

Causes Chromosome 4, Monosomy 4q is caused by a partial deletion of the long arm of chromosome 4. [rarediseases.org]

[…] q long arm of chromosome r ring chromosome 46,X,r(X) Female with ring X chromosome rcp reciprocal translocation rob Robertsonian translocation t translocation 46,XX,t(2;8 [radford.edu]

This can be terminal (close to the end of the chromosome on the long arm or the short arm), or it can be interstitial (within the long arm or the short arm). [sapientfridge.org]

Eunuchism

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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]

Congenital Bile Acid Synthesis Defect Type 2

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]

Amino acid n-acyltransferase deficiency is caused by mutations in the BAAT gene located on the long arm of chromosome 9 (9q31.1). [rarediseases.org]

Congenital Malformation Syndromes Involving Early Overgrowth

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]

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]

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]

Drayer Syndrome

ARM RING CHROMOSOME-15 GROWTH-RETARDATION CANDIDATE REGION DEVELOPMENTAL DELAY TERMINAL DELETION Persistent link APA Author BIBTEX Harvard Standard RIS Vancouver [research.rug.nl]

An infant with deletion of the distal long arm of chromosome 15 (q26.1 → qter) and loss of insuline-like growth factor I receptor gene. [nature.com]

Zurück zum Zitat Roback EW, Barakat AJ, Dev VG, Mbikay M, Chrétien M, Butler MG (1991) An infant with deletion of the distal long arm of chromosome 15 (q26.1----qter) and [springermedizin.de]

Partial Trisomy 8q

Arm of Chromosome 8: Case Report and Review of the Literature. [scitechnol.com]

[…] 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]

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]

The location of the breakpoints was determined by typing polymorphic markers from the distal end of the long arm of chromosome 15 in both the probands and their parents. [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]

[…] q long arm of chromosome r ring chromosome 46,X,r(X) Female with ring X chromosome rcp reciprocal translocation rob Robertsonian translocation t translocation 46,XX,t(2;8 [radford.edu]

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]

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]

long arm band (13q33). [springerlink.com]

Ring Chromosome 11 Syndrome

Ann Genet (Paris) 24: 172–175 Google Scholar O'Hare AE, Grace E, Edmunds AT (1984) Deletion of the long arm of chromosome 11 [46,XX,del(11) (q24.1 qter)]. [link.springer.com]

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]

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]

Ring Chromosome 10

[chr3:158573187_qterdelinschr8:(128534000_128546000)_qter] derivative chromosome 5, translocation between short arm chromosome 5 and long arm chromosome 10 with homology at [hgvs.org]

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]

Genes of importance lost in the ring chromosome formation The 12.5 Mb long deletion of the long arm from cytoband 10q26.12 -> qter represents in the order of 100 protein coding [molecularcytogenetics.biomedcentral.com]

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]

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]

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), [jamanetwork.com]

Ring Chromosome 14 Syndrome

[…] q long arm of chromosome r ring chromosome 46,X,r(X) Female with ring X chromosome rcp reciprocal translocation rob Robertsonian translocation t translocation 46,XX,t(2;8 [radford.edu]

An 'isochromosome' is an unusual chromosome with two identical arms, either two short (p) arms or two long (q) arms produced by transverse rather than normal longitudinal [biotecharticles.com]

Ring14 indicates an alteration of chromosome 14, which acquires a ring shape because the two ends, one of the long arm and the other of the short arm, join together. [ring14.org]

Ring Chromosome 7

FISH with subtelomeric probes showed the presence of normal short and long arm subtelomere signals on the normal and the del (7), but not the ring 7. [ashg.org]

We report a girl with severe retardation of expressive speech development carrying a small, supernumerary ring chromosome derived from the proximal region of the long arm [ncbi.nlm.nih.gov]

This is the first patient carrying a mosaic neocentric SRC derived from the long arm of chromosome 7. [figshare.com]

Leri Pleonosteosis

[citation needed]The pathogenesis of this condition appears to be due to over expression of two genes - GDF6 and SDC2.[2] These genes are located on the long arm of chromosome [en.wikipedia.org]

These genes are located on the long arm of chromosome 8 (8q22.1). Pathophysiology Etiology unknown. [accessanesthesiology.mhmedical.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]

Ring Chromosome 19

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]

His mother had an interstitial deletion of the long arm of chromosome 19 and the same ring chromosome. [biblio.ugent.be]

A.: Partial deletion of the long arm of chromosome 18. Humangenetik 7, 359–360 (1969). Google Scholar Moore, M. [link.springer.com]

Ring Chromosome 9

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]

– 1976: Chro- mosome 11 long arm partial deletion: a new syndrome. Am. J. ment. Defic., 80: 473-475. 34. [passeidireto.com]

arm) of chromosome 22. [icd.codes]

Ring Chromosome 17

Figure 3 Cell 13.3, a 56.9-Mbp loss of the Y chromosome short-arm and long-arm material, and a 19.3-Mbp partial gain of the long arm of chromosome 22. [academic.oup.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]

arm, associated with the deletion of the 21q telomeric region. [journals.lww.com]