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9p deletion syndrome - rare chromosomal disorder involving short arm of chromosome 9
Definition for 9p deletion syndrome
Monosomy 9p (also known as Alfi's Syndrome or 9P-) is a rare chromosomal disorder in which there is deletion (monosomy) of a portion of chromosome 9.
more
Monosomy 9p (also known as Alfi's Syndrome or 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.
less
some common symptoms
bulging eyeball(s)
deformity skull
delayed development
some related diagnoses
1 - 2 of
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neurofibromatosis type 1
intracranial arteriovenous malformations
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do i have '9p deletion syndrome'?
In addition the following diagnostic tests might be need to help verify the diagnosis:
diagnostic test search results for '9p deletion syndrome'
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Chromosomal analysis
9p deletion syndrome and Chromosomal analysis
Developmental testing
9p deletion syndrome and Developmental testing
therapeutic procedures for '9p deletion syndrome'?
Managing or treating a diseases should always be determined by a patients health care provider. Below is a list of associated therapeutic procedures or medications for 9p deletion syndrome:
therapeutic procedure search results for '9p deletion syndrome'
rankings are computer generated. please consult your health care provider.
medications search results for '9p deletion syndrome'
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web search results for 9p deletion syndrome
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1 - 50
- alfi's syndrome
A clinical syndrome associated with 5p duplication and 9p deletion.
... associated with partial duplication chromosome 5p and possibly deletion of 9p. ... 5q duplications, perhaps because the others do not have partial deletion of 9p. ...
http://www.ncbi.nlm.nih.gov/pubmed/6965836?dopt=Abstract
www.ncbi.nlm.nih.gov
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summary
Nonketotic hyperglycinemia in a patient with the 9p- syndrome.
... a newborn infant with 9p- syndrome and nonketotic hyperglycinemia. ... Chromosome Deletion* Chromosomes, Human, Pair 9* Genes, Recessive. Genetic Counseling ...
http://www.ncbi.nlm.nih.gov/pubmed/2773994
www.ncbi.nlm.nih.gov
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summary
Monosomy 9p - Wikipedia, the free encyclopedia
... candidate region for monosomy 9p syndrome to a 4.7-Mb ... Hirschhorn syndrome (4) · Cri du chat/Chromosome 5q deletion syndrome (5) · Williams syndrome (7) ...
http://en.wikipedia.org/wiki/Monosomy_9p
en.wikipedia.org
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summary
MIM Gene map
9p. CD72, LYB2. CD72 antigen. 107272. REa. 4(Lyb2) 9p. DEL9p, C9DELp. Chromosome 9p deletion syndrome. 158170. Chromosome 9p deletion syndrome (4) Ch. 9p. HDLCQ1 ...
http://www.ncbi.nlm.nih.gov/Omim/getmap.cgi?d5232
www.ncbi.nlm.nih.gov
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summary
WebMD Health A-Z - Find reliable health and medical information on ...
Del(9p) Syndrome, Partial. Delayed Hypersensitivity. Deletion 11q Syndrome, Partial ... Deletion 9p Syndrome, Partial. Delleman Syndrome. Delleman-Oorthuys Syndrome ...
http://www.webmd.com/a-to-z-guides/health-topics/da-de.htm
www.webmd.com
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summary
MIM Gene map
9p. CD72, LYB2. CD72 antigen. 107272. REa. 4(Lyb2) 9p. DEL9p, C9DELp. Chromosome 9p deletion syndrome. 158170. Chromosome 9p deletion syndrome (4) Ch. 9p. HDLCQ1 ...
http://www.ncbi.nlm.nih.gov/Omim/getmap.cgi?l601092
www.ncbi.nlm.nih.gov
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summary
MIM Gene map
9p. CD72, LYB2. CD72 antigen. 107272. REa. 4(Lyb2) 9p. DEL9p, C9DELp. Chromosome 9p deletion syndrome. 158170. Chromosome 9p deletion syndrome (4) Ch. 9p. HDLCQ1 ...
http://www.ncbi.nlm.nih.gov/Omim/getmap.cgi?l601782
www.ncbi.nlm.nih.gov
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summary
MIM Morbid map
Chromosome 9p deletion syndrome (4) DEL9p, C9DELp. 158170. 9p. Chromosome 9q subtelomeric deletion syndrome, 610253 (3) EHMT1, EUHMTASE1, DEL9q34 ...
http://www.ncbi.nlm.nih.gov/Omim/getmorbid.cgi?start=791
www.ncbi.nlm.nih.gov
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summary
9p partial monosomy syndrome(9p monosomy syndrome) - NextBio
... 13 Dutch patients with deletion 9p syndrome: Delineation of the critical region ... The deletion 9p syndrome is caused by a constitutional monosomy of part of the ...
http://www.nextbio.com/b/home/home.nb?q=9p+monosomy+syndrome
www.nextbio.com
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summary
MIM Morbid map
Chromosome 9p deletion syndrome (4) DEL9p, C9DELp. 158170. 9p. Chromosome 9q subtelomeric deletion syndrome, 610253 (3) EHMT1, EUHMTASE1, DEL9q34 ...
http://www.ncbi.nlm.nih.gov/Omim/getmorbid.cgi?term=18
www.ncbi.nlm.nih.gov
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summary
Detailed characterization of, and clinical correlations in, 10 patients ...
... 9p- phenotype and shows a 140-kb interstitial telomeric deletion ... genes may contribute to some of the cardinal features of 9p deletion syndrome. ...
http://www.ncbi.nlm.nih.gov/pubmed/18641517?ordinalpos=30&it...
www.ncbi.nlm.nih.gov
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summary
9p partial monosomy syndrome - NextBio
Association of deletion 9p, 46,XY gonadal dysgenesis and autistic spectrum disorder. ... and, depending on the extent of the deletion, the monosomy 9p syndrome. ...
http://www.nextbio.com/b/home/home.nb?q=9p+partial+monosomy+syndrome
www.nextbio.com
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summary
Genomics|Family History|Genetic Risk Assessment and CAD|Page 3
... cholesterol concentrations to a locus on chromosome 9p in Mexican Americans. ... Prevalence of the metabolic syndrome among US adults. JAMA 2002;287:356-9. ...
http://www.cdc.gov/genomics/activities/FHx/scheuner_CADp3.htm
www.cdc.gov
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summary
chromosome 9p deletion syndrome
http://www.nlm.nih.gov/cgi/jablonski/syndrome_cgi?term=chrom...
www.nlm.nih.gov
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summary
Orphanet: Elenco delle malattie
Deletion 2p21. Delezione 10p distale. Delezione 10p non distale. Delezione 10p telomerica ... DESC syndrome. De Smet - Fabry - Fryns, sindrome di. Desminopatia ...
http://www.orpha.net/consor/cgi-bin/Disease_Search_List.php?lng=IT&TAG=D
www.orpha.net
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summary
Narrowing candidate region for monosomy 9p syndrome to a 4.7-Mb segment ...
... with clinical manifestations of monosomy 9p syndrome and brown hair is described. ... in chromosomes 2 and 9, which included a 6.6-Mb deletion at 9p22.2-p23. ...
http://www.ncbi.nlm.nih.gov/pubmed/16419130
www.ncbi.nlm.nih.gov
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summary
OMIM Update List for October, 2008
158170 CHROMOSOME 9p DELETION SYNDROME. 162900 NEVUS, EPIDERMAL. 182000 KERATOSIS, SEBORRHEIC ... 612313 CHROMOSOME 2q32-q33 DELETION SYNDROME ...
http://www.ncbi.nlm.nih.gov/Omim/dispmonthly.cgi?10.2008
www.ncbi.nlm.nih.gov
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summary
Genomics|HuGENet|Literature|2007 December 6
... is encoded by distinct, tightly linked, SNPs in the ANRIL locus on chromosome 9p ... Association of an IRF5 gene functional polymorphism with Sjogren's syndrome ...
http://www.cdc.gov/genomics/hugenet/literature/2007/Hdec06.htm
www.cdc.gov
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summary
chromosome 9q duplication/chromosome 9p deletion syndrome
http://www.nlm.nih.gov/cgi/jablonski/syndrome_cgi?term=chrom...
www.nlm.nih.gov
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summary
Statistique d'Usage du Serveur Orphanet orphanet.orpha.net - Juin 2008 ...
Hits Référent -4616997 32.64% - (Direct Request) 3455157 24.43% http://www.orpha. ... www.medigle.de/rw/diagnoses/18p+deletion+syndrome 114 0.00% http://www.orpha.net ...
http://www.orpha.net/stat/orphanet/ref_200806.html
www.orpha.net
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summary
MIM Gene map
9p. CD72, LYB2. CD72 antigen. 107272. REa. 4(Lyb2) 9p. DEL9p, C9DELp. Chromosome 9p deletion syndrome. 158170. Chromosome 9p deletion syndrome (4) Ch. 9p. HDLCQ1 ...
http://www.ncbi.nlm.nih.gov/Omim/getmap.cgi?d5231
www.ncbi.nlm.nih.gov
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summary
MIM Gene map
9p. CD72, LYB2. CD72 antigen. 107272. REa. 4(Lyb2) 9p. DEL9p, C9DELp. Chromosome 9p deletion syndrome. 158170. Chromosome 9p deletion syndrome (4) Ch. 9p. HDLCQ1 ...
http://www.ncbi.nlm.nih.gov/Omim/getmap.cgi?l147183
www.ncbi.nlm.nih.gov
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summary
MIM Gene map
9p. CD72, LYB2. CD72 antigen. 107272. REa. 4(Lyb2) 9p. DEL9p, C9DELp. Chromosome 9p deletion syndrome. 158170. Chromosome 9p deletion syndrome (4) Ch. 9p. HDLCQ1 ...
http://www.ncbi.nlm.nih.gov/Omim/getmap.cgi?l167320
www.ncbi.nlm.nih.gov
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summary
Statistique d'Usage du Serveur Orphanet orphanet.orpha.net - Novembre ...
32 0.05% syndrome de lyell 31 0.05% artrite psoriatica 31 0.05% atresia de ... 4 0.01% chromosome 1p36 deletion 4 0.01% cirrosi biliare primitiva ...
http://www.orpha.net/stat/orphanet/search_200611.html
www.orpha.net
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summary
MIM Gene map
9p. CD72, LYB2. CD72 antigen. 107272. REa. 4(Lyb2) 9p. DEL9p, C9DELp. Chromosome 9p deletion syndrome. 158170. Chromosome 9p deletion syndrome (4) Ch. 9p. HDLCQ1 ...
http://www.ncbi.nlm.nih.gov/Omim/getmap.cgi?l605227
www.ncbi.nlm.nih.gov
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summary
Statistique d'Usage du Serveur Orphanet orphanet.orpha.net - Aout 2007 ...
... klinefelter 125 0.09% capillary leak syndrome 124 0.09% microftalmia 121 0.09 ... hiperoxaluria 24 0.02% lewis sumner syndrome 24 0.02% linfedema congenito 24 ...
http://www.orpha.net/stat/orphanet/search_200708.html
www.orpha.net
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summary
Chromosome 9, Partial Monosomy 9p - Yahoo! Health
... main title of the report Chromosome 9, Partial Monosomy 9p is not the name you expected. Please check the ... Deletion 9p Syndrome, Partial. 9p- Syndrome, ...
http://health.yahoo.com/children-resources/chromosome-9-part...
health.yahoo.com
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summary
Statistique d'Usage du Serveur Orphanet orphanet.orpha.net - Mars 2008 ...
amylose 10 0.02% brugada syndrome 10 0.02% cone rod dystrophy 10 0.02% cutaneous ... reductase deficiency syndrome 2 0.00% 5p deletion karyotype 2 0.00% 81.93.6.203 ...
http://www.orpha.net/stat/orphanet/search_200803.html
www.orpha.net
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summary
Clinical and cytogenetic characterization of 13 Dutch patients with ...
The deletion 9p syndrome is caused by a constitutional monosomy of part of the ... narrow down the critical region for deletion 9p syndrome to approximately 300 kb. ...
http://www.ncbi.nlm.nih.gov/pubmed/18452192?dopt=Abstract
www.ncbi.nlm.nih.gov
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summary
9q partial trisomy syndrome - NextBio
... phenotype of 9q subtelomeric deletion syndrome and additional exophthalmos and ... Trisomy 9p is one of the most frequent autosomal anomalies compatible ...
http://www.nextbio.com/b/home/generalSearch.nb?q=9q+partial+trisomy+syndrome
www.nextbio.com
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summary
12p partial monosomy syndrome - NextBio
... and ventriculomegaly associated with partial trisomy 9p and distal 12p deletion. ... Y;12 translocation in a boy with features of the 12p deletion syndrome. ...
http://www.nextbio.com/b/home/home.nb?q=12p+partial+monosomy+syndrome
www.nextbio.com
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summary
Trisomy 9 - Wikipedia, the free encyclopedia
Chromosome 9, Trisomy 9p (Multiple Variants) ... Hirschhorn syndrome (4) · Cri du chat/Chromosome 5q deletion syndrome (5) · Williams syndrome (7) ...
http://en.wikipedia.org/wiki/Trisomy_9
en.wikipedia.org
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summary
12p partial trisomy syndrome - NextBio
Angelman syndrome chromosome abnormalities complex partial seizures Dandy-Walker ... and ventriculomegaly associated with partial trisomy 9p and distal 12p deletion. ...
http://www.nextbio.com/b/home/home.nb?q=12p+partial+trisomy+syndrome
www.nextbio.com
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summary
OMIM Update List for March, 2006
158170 MONOSOMY 9p SYNDROME. 167220 PACMAN DYSPLASIA. 182210 SHPRINTZEN OMPHALOCELE SYNDROME ... 606232 CHROMOSOME 22q13.3 DELETION SYNDROME ...
http://www.ncbi.nlm.nih.gov/Omim/dispmonthly.cgi?3.2006
www.ncbi.nlm.nih.gov
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summary
MIM Gene map
some linkage studies negative; see 9p. F, Fd, D. 1p36. DVL1 ... Chromosome 1p36 deletion syndrome. 607872. Chromosome 1p36 deletion syndrome (4) ...
http://www.ncbi.nlm.nih.gov/Omim/getmap.cgi?l185470
www.ncbi.nlm.nih.gov
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summary
46,XY Disorder of Sex Development and 46,XY Complete Gonadal Dysgenesis ...
Some cases have cytogenetic deletions of 9p, 2q, or 10q or duplications of 1p ... Fraser syndrome (FS) is characterized by focal and segmental glomerulosclerosis ...
http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=gonad-dys-46xy
www.ncbi.nlm.nih.gov
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summary
21q partial distal trisomy syndrome - NextBio
... dismutase trisomy 21 trisomy 9p syndrome Ts1Cje Ts65Dn ventricular septal defect ... with Down syndrome and deletion 1p36 syndrome by fluorescence in ...
http://www.nextbio.com/b/home/home.nb?q=21q+partial+distal+t...
www.nextbio.com
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L1 Syndrome -- GeneReviews -- NCBI Bookshelf
Duplication/deletion analysis. The frequency of deletions and duplications is unknown. ... Trisomy 9 and 9p (mosaic) Triploidy. Others. Mendelian (single gene) ...
http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=l1cam
www.ncbi.nlm.nih.gov
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summary
L1 Syndrome
In two different families, two males had a large deletion; in another family, ... Trisomy 9 and 9p (mosaic) ? Triploidy. ? Others. Mendelian (single gene) conditions ...
http://www.ncbi.nlm.nih.gov/bookshelf/picrender.fcgi?book=ge...
www.ncbi.nlm.nih.gov
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summary
21q partial trisomy syndrome - NextBio
... Weber syndrome superoxide dismutase trisomy 21 trisomy 9p syndrome Ts65Dn ... affected with Down syndrome and deletion 1p36 syndrome by fluorescence in situ ...
http://www.nextbio.com/b/home/home.nb?q=21q+partial+trisomy+syndrome
www.nextbio.com
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summary
Frequent abnormalities of the p15 and p16 genes in mycosis fungoides ...
Frequent abnormalities of the p15 and p16 genes in mycosis fungoides and sezary syndrome. ... study by our group identified frequent allelic loss on 9p, 10q, and 17p ...
http://www.ncbi.nlm.nih.gov/pubmed/11874489
www.ncbi.nlm.nih.gov
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summary
8p partial monosomy syndrome - NextBio
The clinical phenotype is compatible with the partial trisomy 9p syndrome. ... An attempt to establish a new chromosome deletion syndrome. ...
http://www.nextbio.com/b/home/home.nb?q=8p+partial+monosomy+syndrome
www.nextbio.com
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summary
GLDC - Wikipedia, the free encyclopedia
... decarboxylase: three-base deletion in mRNA causes nonketotic ... Nonketotic hyperglycinemia in a patient with the 9p- syndrome.". Am. J. Med. Genet. ...
http://en.wikipedia.org/wiki/GLDC
en.wikipedia.org
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summary
deletion 9p syndrome
http://www.nlm.nih.gov/cgi/jablonski/syndrome_cgi?term=delet...
www.nlm.nih.gov
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summary
Brain tumors, adult: Treatment - Health Professional Information [NCI ...
... in meningiomas involves a deletion of chromosome 22. Molecular genetics ... The syndrome is related to germline mutations of the VHL tumor suppressor gene, ...
http://health.yahoo.com/cancer-treatment/brain-tumors-adult-...
health.yahoo.com
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summary
K McElreavey - NextBio
Association of deletion 9p, 46,XY gonadal dysgenesis and autistic spectrum disorder. ... and, depending on the extent of the deletion, the monosomy 9p syndrome. ...
http://www.nextbio.com/b/literature/literature.nb?author=K+McElreavey
www.nextbio.com
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summary
OMIM Update List for August, 2008
612242 CHROMOSOME 10q23 DELETION SYNDROME ... 158170 MONOSOMY 9p SYNDROME. 164040 NUCLEOPHOSMIN/NUCLEOPLASMIN FAMILY, MEMBER 1; NPM1 ...
http://www.ncbi.nlm.nih.gov/Omim/dispmonthly.cgi?8.2008
www.ncbi.nlm.nih.gov
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MA Micale - NextBio
... hotspots and delineation of the critical region for the 9p-deletion syndrome. ... clinical features of the 9p-deletion syndrome include dysmorphic facial features ...
http://www.nextbio.com/b/literature/literature.nb?author=MA+Micale
www.nextbio.com
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List of diseases (C) - Wikipedia, the free encyclopedia
Chromosome 18 long arm deletion syndrome. Chromosome 18 mosaic monosomy. Chromosome 18 ring ... Chromosome 9, tetrasomy 9p. Chromosome 9, trisomy 9q ...
http://en.wikipedia.org/wiki/List_of_diseases_(C)
en.wikipedia.org
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summary
What Makes a Cancer Cell a Cancer Cell?
These deletion events often involve loss of heterozygosity (LOH) of the ... loss occurs in cancer cells on chromosomes 3p, 5q, 7q, 8q, 9p, 13q, 17p, and 18q. ...
http://www.ncbi.nlm.nih.gov/books/bv.fcgi?rid=cmed.section.1871
www.ncbi.nlm.nih.gov
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summary
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