J Med Genet. 1992 Jun;29(6):432-3.

Terminal 22q deletion associated with a partial deficiency of arylsulphatase A.

Narahara K, Takahashi Y, Murakami M, Tsuji K, Yokoyama Y, Murakami R, Ninomiya S, Seino Y.

Source

Department of Pediatrics, Okayama University Medical School, Japan.

Abstract

A 7 month old girl with psychomotor retardation, hypotonia, and minor malformations was found to have a terminal deletion of the long arm of chromosome 22, del(22)(q13.31). The partial deficiency of arylsulphatase A (ARSA) and the normal level of NADH diaphorase 1 (DIA1) suggests that the ARSA locus can be regionally assigned to 22q13.31----qter and the DIA1 locus can be excluded from the same segment. This report is the third published case with a terminal 22q deletion.

PMID:: 1352356; [PubMed - indexed for MEDLINE]
PMCID:: PMC1016000

Free PMC Article

Publication Types, MeSH Terms, Substances

Publication Types

MeSH Terms

Substances

LinkOut - more resources

Full Text Sources

Medical

ARSA Gene - Genetics Home Reference

Supplemental Content

Save items

Related citations in PubMed

Conserved autosomal syntenic group on mouse (MMU) chromosome 15 and human (HSA) chromosome 22: assignment of a gene for arylsulfatase A to MMU 15 and regional mapping of DIA1, ARSA, and ACO2 on HSA 22. [Cytogenet Cell Genet. 1981]
Conserved autosomal syntenic group on mouse (MMU) chromosome 15 and human (HSA) chromosome 22: assignment of a gene for arylsulfatase A to MMU 15 and regional mapping of DIA1, ARSA, and ACO2 on HSA 22.
Francke U, Tetri P, Taggart RT, Oliver N. Cytogenet Cell Genet. 1981; 31(2):58-69.
Cryptic subtelomeric translocations in the 22q13 deletion syndrome. [J Med Genet. 2000]
Cryptic subtelomeric translocations in the 22q13 deletion syndrome.
Praphanphoj V, Goodman BK, Thomas GH, Raymond GV. J Med Genet. 2000 Jan; 37(1):58-61.
Partial monosomy for chromosome 22 in a patient with del(22)(pter----q13.1::q13.33----qter). [J Med Genet. 1990]
Partial monosomy for chromosome 22 in a patient with del(22)(pter----q13.1::q13.33----qter).
Romain DR, Goldsmith J, Cairney H, Columbano-Green LM, Smythe RH, Parfitt RG. J Med Genet. 1990 Sep; 27(9):588-9.
Review Terminal deletion of the long arm of chromosome 3 [46,XX,del(3)(q27-->qter)]. [Am J Med Genet. 1996]
Review Terminal deletion of the long arm of chromosome 3 [46,XX,del(3)(q27-->qter)].
Chitayat D, Babul R, Silver MM, Jay V, Teshima IE, Babyn P, Becker LE. Am J Med Genet. 1996 Jan 2; 61(1):45-8.
Review Partial deletion 11q: report of a case with a large terminal deletion 11q21-qter without loss of telomeric sequences, and review of the literature. [Clin Genet. 1995]
Review Partial deletion 11q: report of a case with a large terminal deletion 11q21-qter without loss of telomeric sequences, and review of the literature.
Hertz JM, Tommerup N, Sørensen FB, Henriques UV, Nielsen A, Therkelsen AJ. Clin Genet. 1995 May; 47(5):231-5.

See reviews... See all...

Cited by 5 PubMed Central articles

The 22q13.3 Deletion Syndrome (Phelan-McDermid Syndrome). [Mol Syndromol. 2012]
The 22q13.3 Deletion Syndrome (Phelan-McDermid Syndrome).
Phelan K, McDermid HE. Mol Syndromol. 2012 Apr; 2(3-5):186-201. Epub 2011 Nov 22.
Phenotypic correlations in a patient with ring chromosome 22. [Indian J Hum Genet. 2010]
Phenotypic correlations in a patient with ring chromosome 22.
Demirhan O, Tunç E. Indian J Hum Genet. 2010 May; 16(2):97-9.
Review Perfect endings: a review of subtelomeric probes and their use in clinical diagnosis. [J Med Genet. 2000]
Review Perfect endings: a review of subtelomeric probes and their use in clinical diagnosis.
Knight SJ, Flint J. J Med Genet. 2000 Jun; 37(6):401-9.

See all...

Related information

Related Citations
Calculated set of PubMed citations closely related to the selected article(s) retrieved using a word weight algorithm. Related articles are displayed in ranked order from most to least relevant, with the “linked from” citation displayed first.
Gene
Gene records that cite the current articles. Citations in Gene are added manually by NCBI or imported from outside public resources.
Gene (nucleotide/PMC)
Records in Gene identified from shared sequence and PMC links.
Gene (OMIM)
Gene records associated with Online Mendelian Inheritance in Man (OMIM) records that cite the current articles in their reference lists.
HomoloGene
HomoloGene clusters of homologous genes and sequences that cite the current articles. These are references on the Gene and sequence records in the HomoloGene entry.
MedGen (OMIM)
Related information in MedGen (OMIM)
Nucleotide
Primary database (GenBank) nucleotide records reported in the current articles as well as Reference Sequences (RefSeqs) that include the articles as references.
Nucleotide (RefSeq)
NCBI nucleotide Reference Sequences (RefSeqs) that are cited in the current articles, included in the corresponding Gene Reference into Function, or that include the PubMed articles as references.
Nucleotide (Weighted)
Nucleotide records associated with the current articles through the Gene database. These are the related sequences on the Gene record that are added manually by NCBI.
OMIM (calculated)
Online Mendelian Inheritance in Man (OMIM) records that include the current articles as references in the light bulb links within or in the citations at the end of the OMIM record. The references available through the light bulb link are collected using the PubMed related articles algorithm to identify records with similar terminology to the OMIM record.
OMIM (cited)
Online Mendelian Inheritance in Man (OMIM) records that include the current articles as reference cited at the end of the OMIM record.
Protein (RefSeq)
NCBI protein Reference Sequences (RefSeqs) that are cited in the current articles, included in the corresponding Gene Reference into Function, or that include the PubMed articles as references.
Protein (Weighted)
Protein records associated with the current articles through related Gene database records. These are the related sequences on the Gene record that are added manually by NCBI.
References for this PMC Article
Citation referenced in PubMed article. Only valid for PubMed citations that are also in PMC.
Substance (MeSH Keyword)
PubChem chemical substance (submitted) records that are classified under the same Medical Subject Headings (MeSH) controlled vocabulary as the current articles.
Taxonomy via GenBank
Taxonomy records associated with the current articles through taxonomic information on related molecular database records (Nucleotide, Protein, Gene, SNP, Structure).
UniGene
UniGene clusters of expressed sequences that are associated with the current articles through references on the clustered sequence records and related Gene records.
Protein
Protein translation features of primary database (GenBank) nucleotide records reported in the current articles as well as Reference Sequences (RefSeqs) that include the articles as references.
GEO Profiles
Gene Expression Omnibus (GEO) Profiles of molecular abundance data. The current articles are references on the Gene record associated with the GEO profile.
Free in PMC
Free full text articles in PMC
Cited in PMC
Full-text articles in the PubMed Central Database that cite the current articles.
Cited in Books
NCBI Bookshelf books that cite the current articles.

Recent activity

Clear Turn Off Turn On

Terminal 22q deletion associated with a partial deficiency of arylsulphatase A.
Terminal 22q deletion associated with a partial deficiency of arylsulphatase A.
J Med Genet. 1992 Jun ;29(6):432-3.

PubMed

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

PubMed

Result Filters

Display Settings:

Send to: