Short Arm: Causes & Reasons

Possible Causes for Short Arm

Short arms and legs, with particularly short upper arms and thighs. An enlarged head (macrocephaly), with a prominent forehead. Fingers that are typically short. [bones.emedtv.com]

Hypochondroplasia causes short arms and legs and broad, short hands and feet and also a large head, limited range of motion at the elbows, lordosis, and bowed legs. [plaza.ufl.edu]

Short stature Short arms and legs (particularly short upper arms and thighs) Limited range of movement in elbows Trident hand (i.e. ring finger and middle finger may diverge [littlepeopleuk.org]

Pseudoachondroplasia

The disease genes in families with PSACH and MED have been localized to an 800 kilobase interval on the short arm of chromosome 19. [ncbi.nlm.nih.gov]

This process is due to mutations in the gene cause COMP, located on the short arm of chromosome 19 (19p13.1). [ivami.com]

Other features include short arms and legs, a waddling walk, early-onset joint pain (osteoarthritis), and a limited range of motion at the elbows and hips. [rareguru.com]

Hypochondroplasia

Hypochondroplasia is a skeletal dysplasia characterized by short stature; stocky build; disproportionately short arms and legs; broad, short hands and feet; mild joint laxity [ncbi.nlm.nih.gov]

Disease Characteristics: HCH is a form of dwarfism resulting in short stature; stocky build; disproportionately short arms and legs; broad, short hands and feet; mild joint [saintfrancis.com]

Cartilage Hair Hypoplasia

We have previously mapped the gene for CHH to the short arm of chromosome 9 in Finnish and Amish families. [ncbi.nlm.nih.gov]

arms and legs (short-limbed dwarfism), increased joint mobility (hypermobility), and fine silky hair. [rarediseases.org]

The locus of the gene has been mapped to the short arm of chromosome 9. Patients with CHH usually suffer from cellular immunodeficiency. [en.wikipedia.org]

Spondyloepimetaphyseal Dysplasia Type Irapa

short stature, pectus carinatum, short arms, short and broad hands, short metatarsals, flat and broad feet, coxa vara, genu valgum, osteoarthritis, arthrosis and moderate-to-serious [orpha.net]

[…] metatarsals flat, broad feet long second toes Skeletal Limbs: osteoarthritis genu valgum metaphyseal dysplasia arthralgias short arms more Skeletal Spine: platyspondyly increased [malacards.org]

Search for a rare disease Spondyloepimetaphyseal dysplasia, Irapa type Disease definition Spondyloepimetaphyseal dysplasia, Irapa type is characterized by disproportionate short-trunked [orpha.net]

Russell-Silver Syndrome

Russell: A syndrome of "intra-uterine" dwarfism recognizable at birth with cranio-facial dysostosis, disproportionately short arms and other anomalies (5 examples). [whonamedit.com]

We also characterized two RSS patients with de novo cytogenetic abnormalities involving the short arm of chromosome 7. [ncbi.nlm.nih.gov]

[…] height, short arms, stubby fingers and toes Stomach and intestine problems such as acid reflux and constipation The condition is usually diagnosed by early childhood. [nlm.nih.gov]

SHOX-Related Short Stature

The SHOX gene is located on the short arm of chromosome X and Y (Xp22.33; Yp11.3) pseudoautosomal region PAR1 in. [ivami.com]

It causes poor bone growth, resulting in short upper arms and thighs. [nhs.uk]

Disproportionate short stature In people with disproportionate short stature (DSS), the arms and legs are particularly short. [nhsdirect.wales.nhs.uk]

Miller-Dieker Syndrome

The Miller-Dieker syndrome (type I lissencephaly) is a neuronal migration disorder which is associated with microdeletions in the short arm of chromosome 17. [ncbi.nlm.nih.gov]

: We confirmed this syndrome with the a microdeletion of p13.3 portion in the short arm of chromosome 17 by the FISH method. [neo-med.org]

The signs and symptoms of the syndrome Miller-Dieker are due to a deletion of genetic material near the end of the short arm of chromosome 17. [ivami.com]

Pallister-Killian Syndrome

Key Points Characterized by tissue-specific presence of an abnormal extra chromosome, which consists of two copies of the short arm of chromosome 12. [mhmedical.com]

After this, we verified that the marker chromosome consisted of symmetric duplication of the entire short arm of chromosome 12 ( Fig. 3 ). [synapse.koreamed.org]

Five of the eighty G-banded metaphases examined had extra material on the terminal short arm of chromosome 12. [ashg.org]

Leri-Weill Dyschondrosteosis

[…] which is found on the short arm of the X and Y chromosomes in the pseudoautosomal region. [sajr.org.za]

[…] is found on the short arm of the X and Y chromosomes in the pseudo-autosomal region. [go.gale.com]

It results from the loss of one copy of the Short Stature Homeobox Gene (SHOX) from the tip of the short arm of the X or Y chromosome. [ncbi.nlm.nih.gov]

Pallister W Syndrome

PKS is typically caused by two extra short arms of chromosome 12 resulting in tetrasomy 12p, but it can also be caused by certain duplications on the short arm of chromosome [chop.edu]

After this, we verified that the marker chromosome consisted of symmetric duplication of the entire short arm of chromosome 12 ( Fig. 3 ). [synapse.koreamed.org]

Key Points Characterized by tissue-specific presence of an abnormal extra chromosome, which consists of two copies of the short arm of chromosome 12. [obgyn.mhmedical.com]

Partial Monosomy 18q

arm of chromosome 18. [karger.com]

Deletion of short arm of chromosome 18, Del(18p) syndrome. [jisppd.com]

[…] a normal centramere and a short arm with the distal tip deleted also he has a partial copy or the defective chromo with a copy of the defected short arm and annother normal [circleofmoms.com]

Chromosome 18p Deletion Syndrome

Affiliations PMID: 24531606 DOI: 10.4103/0970-4388.127063 Case Reports Deletion of short arm of chromosome 18, Del(18p) syndrome Prashant Babaji et al. [pubmed.ncbi.nlm.nih.gov]

Deletion of short arm of chromosome 18, Del(18p) syndrome. [jisppd.com]

Summary Deletion of the short arm of chromosome 18 produces a highly variable phenotype. [link.springer.com]

Monosomy 1p36 Syndrome

Cytogenetic analysis identified 1p36.33-pter deletion (~139 Mb terminal deletion in chromosome 1 short arm) and Y chromosome duplication. [ncbi.nlm.nih.gov]

arm of chromosome 1. [onlinelibrary.wiley.com]

Causes 1p36 deletion syndrome is caused by a deletion of genetic material from a specific region in the short (p) arm of chromosome 1. [encyclopedia.pub]

Smith-Magenis Syndrome

We used probes from the juxta-centromeric region of the chromosome 17 short arm to map three microdeletions in patients with Smith-Magenis syndrome. [ncbi.nlm.nih.gov]

Cytogenetic analysis showed that the proximal long arm of a chromosome 17 (q11.2-q21.3) was inserted into its short arm at p11.2, resulting in an apparent deletion of the [ncbi.nlm.nih.gov]

Smith-Magenis syndrome (SMS) is a multiple congenital anomalies/mental retardation syndrome characterized by an interstitial deletion on the short arm of chromosome 17 involving [ncbi.nlm.nih.gov]

Ichthyosis and Male Hypogonadism

Flow cytometry and the use of special probes indicated that these two brothers had a large deletion of the short arm of the X chromosome which included the STS locus, the [karger.com]

The gene coding for STS has been mapped to the short arm of the X chromosome at Xp22.3. [medicaljournals.se]

This disease is due to mutations in the STS gene, located on the short arm of chromosome X (Xp22.32). [ivami.com]

Atelosteogenesis

Infants born with this condition have very short arms and legs, a narrow chest, and a prominent, rounded abdomen. [goldbamboo.com]

Infants born with this condition have very short arms and legs, a narrow chest, and a prominent, rounded abdomen. This ... [goldbamboo.com]

Gonadoblastoma

Discussion Deletions of various sizes on the short arm of chromosome 9 are associated with two distintic clinical entities. [omicsonline.org]

It has been mapped to a critical interval on the short arm and adjacent centromeric region on the Y chromosome. [scholars.northwestern.edu]

The breakpoints, defined by fluorescent in situ hybridization (FISH), were located on the very distal short arm on band Yp11.31 and in the middle of the Yq12 long arm heterochromatic [ncbi.nlm.nih.gov]

Monosomy 21q

[…] of chromosomes 14 and 21; karyotype is missing a normal 14 and a normal 21 4p- Chromosome 4 with a on of the short arm deleted. : break 5qter -->5p15: deleted chromosome [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]

18 or 21 deletion Q93.89 ICD-10-CM Codes Adjacent To Q93.89 Q93.3 Deletion of short arm of chromosome 4 Q93.4 Deletion of short arm of chromosome 5 Q93.5 Other deletions [icd10data.com]

Wolf-Hirschhorn Syndrome

Partial deletion of the short arm of chromosome 4 (4p-) represents another (rare) cause of cleft lip and cleft palate. [jamanetwork.com]

Wolf-Hirschhorn syndrome (WHS) is the result of a partial deletion of the short arm of chromosome 4. [symptoma.com]

The manifestations are the result of a partial delet ion of the short arm of one chromosome 41. [scielo.iec.gov.br]

Cri Du Chat Syndrome

This syndrome is caused by a deletion of the short arm of chromosome 5, which can involve total loss of the material on the short arm, or affect only the 5p15.2 region 9. [redalyc.org]

It is caused by a deletion of the short arm of chromosome 5 (5p-) Deletion of the short arm of chromosome 5 characterized by a variable clinical picture consisting of severe [icd9data.com]

Abstract Cri-du-chat is a chromosomal deletion syndrome characterized by partial deletion of the short arm of chromosome 5. [ncbi.nlm.nih.gov]

Leri Pleonosteosis

A child that is born with Leri-Weill disease will have short arms and short legs, as well as bone abnormalities of the wrist and arm. [medigoo.com]

For example, “chromosome 11p13” refers to band 13 on the short arm of chromosome 11. [rarediseases.org]

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]

Trisomy 20p

@article{ubrt1974TrisomyFS, title={Trisomy for short arm of chromosome 20}, author={Ivan {\vS}ubrt and V{\'a}clav Brychn{\'a}{\vc}}, journal={Humangenetik}, year={1974}, volume [semanticscholar.org]

Trisomy for short arm of chromosome 20. [link.springer.com]

Summary In a patient with a peculiar face and with a severe spondylar dysplasia partial trisomy of the short arm of chromosome 20 was detected. [springerlink.com]

Partial Trisomy 4p Syndrome

We report here a second case of a de novo chromosome 4 whole arm translocation with short-arm isochromosome formation, which we have delineated further by FISH studies. [ncbi.nlm.nih.gov]

Five new cases of trisomy of the short arm of chromosome No. 4 are presented. [ncbi.nlm.nih.gov]

Trisomy of the short arm of chromosome 4 is a well-known syndrome, and several observations have been made in the last 30 years. [ncbi.nlm.nih.gov]

Trisomy 17p

Precarious acrocentric short arm in prenatal diagnosis: no chromosome 14 polymorphism, but trisomy 17p: We report on a girl with multiple congenital abnormalities and a prenatally [ncbi.nlm.nih.gov]

A patient with pure trisomy of the short arm of chromosome 17 in 60% of the examined cells is reported. [ncbi.nlm.nih.gov]

Discussion We report the case of a prenatally detected unbalanced translocation of the short arm of chromosome 17, where the short arm over the p11.2 part was attached to [hindawi.com]

Trisomy 18p

Structural abnormalities of chromosome 18p mainly consist of isochromosomes of the short arm, which result in tetrasomy 18p. [ncbi.nlm.nih.gov]

AB - Two cases with a short arm deletion of chromosome 18 and the one case of 18p trisomy due to a paternal (t 14, 18) translocation are reported. [moh-it.pure.elsevier.com]

ORPHA:1715 Synonym(s): Duplication 18p Duplication of the short arm of chromosome 18 Trisomy of the short arm of chromosome 18 Prevalence: Inheritance: - Age of onset: Infancy [orpha.net]

Atelosteogenesis Type 2

Infants born with this condition have very short arms and legs, a narrow chest, and a prominent, rounded abdomen. [goldbamboo.com]

Infants born with the disorder have short arms and legs, a narrow chest, and a prominent round abdomen. [onlymyhealth.com]

Infants born with this condition have very short arms and legs, a narrow chest, and a prominent, rounded abdomen. This ... [goldbamboo.com]

Partial Trisomy 8q

Partial monosomy 18p, deletion of the short arm of chromosome 18, is also a well-recognized syndrome. [ncbi.nlm.nih.gov]

[…] 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]

[…] of chromosomes 14 and 21; karyotype is missing a normal 14 and a normal 21 4p- Chromosome 4 with a on of the short arm deleted. : break 5qter -->5p15: deleted chromosome [radford.edu]

Ring Chromosome 1

One patient had evidence for contiguous pericentric short arm euchromatin which extended from the centromere to beyond the BAC923C6. [jmg.bmj.com]

Using molecular cytogenetic techniques, the marker chromosome was characterized as an extra ring chromosome consisting of euchromatic material from the proximal short arm [ncbi.nlm.nih.gov]

In the p-arm of chromosome 1 HMG17, another member of the high-mobility group of proteins has been localized to the short arm of chromosome 1 (1p35) with two PAC clones on [ncbi.nlm.nih.gov]

Ring Chromosome 18

FISH analysis was performed for precise characterization of the chromosome 18 breakpoints using chromosome 18-specific short-arm paint, centromeric, subtelomeric, and a panel [ncbi.nlm.nih.gov]

Dyshormonogenetic goitrous hypothyroidism in a patient with short arm deletion of E18 chromosome. Hormone Res. 6 : 28–35. [link.springer.com]