*  Chromosome 2q Deletion
... is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on ... "Chromosome 2q deletion - Genetic and Rare Diseases Information Center (GARD) - an NCATS Program". rarediseases.info.nih.gov. ... Features that often occur in people with chromosome 2q deletion include developmental delay, intellectual disability, ... Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and ...
*  Chromosome 5q deletion syndrome
... (chromosome 5q monosomy, 5q- syndrome) is an acquired, hematological disorder characterized by ... This should not be confused with the germ line cri du chat (5p deletion) syndrome which is a deletion of the short arm of the ... October 2006). "Lenalidomide in the myelodysplastic syndrome with chromosome 5q deletion". N. Engl. J. Med. 355 (14): 1456-65. ... associated with chromosome 5q deletion with or without additional cytogenetic abnormalities. There are several possible ...
*  Chromosome 15q partial deletion
Chromosome 15q trisomy Genetics Genetic deletion "Chromosome15q deletion". nih.gov. Retrieved 2016-08-05. "15q deletion" (PDF ... Chromosome 15q partial deletion is a rare human genetic disorder, caused by a chromosomal aberration in which the long ("q") ... Deletions of regions of chromosome 15 (notably regions 15q15 and 15q22) on several types of human tumours suggest the presence ... In addition to deletions, uniparental disomy of chromosome 15 also gives rise to the same genetic disorders, indicating that ...
*  Unibrow
3p Deletion Syndrome; Chromosome Deletion Dillan 4p Syndrome (Wolf-Hirschhorn Syndrome); Gorlin Syndrome (Basal Cell Nevus ... Syndrome); Cornelia de Lange Syndrome Frontometaphyseal Dysplasia; ATRX Syndrome; Chromosome 9q34 Microdeletion Syndrome or ...
*  Uterus-like mass
A clonal chromosome deletion 2p21 was found in endomyometriosis by Verhest et al. while Pai evidenced a strict relationship ... Verhest A, Simonart T, Noel JC (1996). A unique clonal chromosome 2 deletion in endomyometriosis. Cancer Genet Cytogenet 1996; ...
*  Disease gene identification
Lee AS, Seo YC, Chang A, Tohari S, Eu KW, Seow-Choen F, McGee JO (September 2000). "Detailed deletion mapping at chromosome ... Mutations in these genes can include single nucleotide substitutions, single nucleotide additions/deletions, deletion of the ... "Chromosome 17 deletions and p53 gene mutations in colorectal carcinomas". Science. 244 (4901): 217-21. doi:10.1126/science. ... "Genome-wide interrogation of Mammalian stem cell fate determinants by nested chromosome deletions". PLoS Genet. 6 (12): ...
*  Chromosomal fragile site
"Association of a chromosome deletion syndrome with a fragile site within the proto-oncogene CBL2". Nature. 376 (6536): 145-9. ... A chromosomal fragile site is a specific heritable point on a chromosome that tends to form a gap or constriction and may tend ... High frequency of deletions at breakpoints within these fragile sites has been associated with many cancers, including breast, ... Common fragile sites are considered part of normal chromosome structure and are present in all (or nearly all) individuals in a ...
*  Hereditary neuropathy with liability to pressure palsy
1993) detected the chromosome deletion in most of the individuals with the HNPP condition. Hereditary motor and sensory ... it is located on chromosome locus 17p12 Overlap with Charcot-Marie-Tooth disease type 1A has been found in Gly94fsX222 (c.281_ ...
*  Bilateral frontoparietal polymicrogyria
Diagnostic criteria for a BFPP patient entails a heterozygous genotype for a deletion of chromosome 16q12.1-q21 region, ... "Bilateral Frontoparietal Polymicrogyria (BFPP) Syndrome Secondary to a 16q12.1-q21 Chromosome Deletion Involving GPR56 Gene." ... To date, a total of fourteen BFPP-associated mutations have been identified, including one deletion, two splicing, and eleven ...
*  Y linkage
Y-Chromosome deletions are a frequent genetic cause of male infertility. Hypertension or high blood pressure appears to be Y- ... X-chromosomes have two copies, one from each parent and recombination can occur. The X-chromosome also contains more genes and ... This is due in part because the Y chromosome is small and does not contain as many genes as autosomal genes or the X chromosome ... In general, traits that exist on the Y chromosome are Y-linked because they only occur on that chromosome and do not change in ...
*  DAZ2
2000). "Male infertility caused by a de novo partial deletion of the DAZ cluster on the Y chromosome". J. Clin. Endocrinol. ... 1995). "Diverse spermatogenic defects in humans caused by Y chromosome deletions encompassing a novel RNA-binding protein gene ... 2002). "[Microdeletion of chromosome Y in male infertility: role of the DAZ gene]". Ann. Ital. Med. Int. 16 (2): 82-92. PMID ... Four copies of this gene are found on chromosome Y within palindromic duplications; one pair of genes is part of the P2 ...
*  DAZ1
"Male infertility caused by a de novo partial deletion of the DAZ cluster on the Y chromosome". The Journal of Clinical ... "Diverse spermatogenic defects in humans caused by Y chromosome deletions encompassing a novel RNA-binding protein gene". Nature ... "Diverse spermatogenic defects in humans caused by Y chromosome deletions encompassing a novel RNA-binding protein gene". Nature ... Four copies of this gene are found on chromosome Y within palindromic duplications; one pair of genes is part of the P2 ...
*  Optogenetics
"Induced chromosome deletions cause hypersociability and other features of Williams-Beuren syndrome in mice". EMBO Molecular ... optogenetics by definition must operate on the millisecond timescale to allow addition or deletion of precise activity patterns ...
*  Glycerol kinase deficiency
The cause of this form is deletion of the Xp21 gene on the X chromosome. Patients have increased levels of serum creatine ... Females have two X chromosomes and males have one X and one Y chromosome .The expression of recessive genes on the X chromosome ... "Chromosome Xp21 Deletion Syndrome". Online Mendelian Inheritance in Man. National Center for Biotechnology Information. 8 ... This is due to the fact that genes present on the Y chromosome do not pair up with genes on the X chromosome in males. In ...
*  Paris-Trousseau syndrome
... is an inherited disorder characterized by mild hemorrhagic tendency associated with 11q chromosome deletion. It manifests as a ...
*  List of OMIM disorder codes
CHM Chromosome 22q13.3 deletion syndrome; 606232; SHANK3 Chromosome 5q14.3 deletion syndrome; 613443; MEF2C Chrondrodysplasia, ... LHCGR Premature chromosome condensation with microcephaly and mental retardation; 606858; MCPH1 Premature ovarian failure 2B; ... chromosome 6-linked; 600110; ELOVL4 Macular dystrophy, patterned; 169150; PRPH2 Macular dystrophy, retinal, 2; 608051; PROM1 ... due to 5q deletion, somatic; 153550; RPS14 Macrothrombocytopenia and progressive sensorineural deafness; 600208; MYH9 ...
*  Virtual karyotype
Human beings are diploid, so a normal copy number is always two for the non-sex chromosomes. Deletions: A deletion is the loss ... Deletions of the long arm on chromosome 11 (del 11q) are also unfavorable although not to the degree seen with del 17p. The ... chromosome 1) to smallest (chromosome 22), with the sex chromosomes (X and Y) shown last. Historically, karyotypes have been ... Deletions of part of the short arm of chromosome 17 (del 17p) which target p53 are particularly deleterious. Patients with this ...
*  DEL17P13.1
Chromosome 17p13.1 deletion syndrome is a protein in humans that is encoded by the DEL17P13.1 gene. "Human PubMed Reference ... "Entrez Gene: Chromosome 17p13.1 deletion syndrome". Retrieved 2012-12-09. ...
*  DEL1Q21
Chromosome 1q21.1 deletion syndrome is a protein that in humans is encoded by the DEL1Q21 gene. "Entrez Gene: Chromosome 1q21.1 ...
*  9q34 deletion syndrome
... , also known as Kleefstra syndrome, is a rare genetic disorder. Terminal deletions of chromosome 9q34 ... The greater the deletions, the greater the severity of the condition. However, in recent studies, 9q34 deletion syndrome occurs ... Array-based comparative genomic hybridization (aCGH) tracks chromosome deletions and or amplifications using fluorescent dyes ... The forty patients were divided into two groups: 1 group of 16 patients with the 9q34 deletion, and 1 group of 24 with typical ...
*  Gliogenesis
Consistent with other tissues, these malignant phenotypes result most commonly from chromosome deletions, translocations, and ...
*  Monosomy 9p
"OMIM Entry - # 158170 - CHROMOSOME 9p DELETION SYNDROME". www.omim.org. Retrieved 2017-03-10. Support group Discovered by Omar ... Monosomy 9p (also known as Alfi's Syndrome or simply 9P-) is a rare chromosomal disorder in which there is deletion (monosomy) ... of a portion of chromosome 9. Symptoms include microgenitalia, mental retardation with microcephaly and dysmorphic features. ...
*  Burnside-Butler syndrome
"OMIM Entry - # 615656 - CHROMOSOME 15q11.2 DELETION SYNDROME". www.omim.org. Retrieved 2015-10-02. [permanent dead link] Ho, ... ASD is a common clinical manifestation of many rare genetic disorders, many of which can be identified by chromosome microarray ... of the top 85 genetic findings associated with neurodevelopmental disorders followed by the proximal 16p11.2 deletion syndrome ...
*  2q37 deletion syndrome
... is a disorder caused by the deletion of a small piece of chromosome 2.2q37 deletion syndrome describes a ... "2q37 deletion syndrome" (PDF). Rare Chromosome Disorder Support Group. Retrieved 8 April 2015. Falk, R.E. & K. A. Casas (15 Nov ... "Chromosome 2q37 deletion: Clinical and molecular aspects". Journal of Medical Genetics. 145C (4): 357-371. doi:10.1002/ajmg.c. ... 1998). "Wilms' tumor and gonadal dysgenesis in a child with the 2q37.1 deletion syndrome". Clin. Genet. 53 (4): 278-80. doi: ...
*  Chromosomal deletion syndrome
... s result from deletion of parts of chromosomes. Depending on the location, size, and whom the ... One of them consists in micro-deletions of the chromosome region 15q11-q13. 70% of patients present a 5-7-Mb de novo deletion ... deletion is inherited from, there are a few known different variations of chromosome deletions. Chromosomal deletion syndromes ... Examples of chromosomal deletion syndromes include 5p-Deletion (cri du chat syndrome), 4p-Deletion (Wolf-Hirschhorn syndrome), ...
*  HOXD8
This gene is one of several homeobox HOXD genes located in a cluster on chromosome 2. Deletions that remove the entire HOXD ... Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, located on different chromosomes, consisting of ... "Clustering of two fragile sites and seven homeobox genes in human chromosome region 2q31→q32.1". Cytogenet. Cell Genet. 90 (1-2 ...