Display Settings:

Format

Send to:

Choose Destination
See comment in PubMed Commons below
J Med Genet. 1992 Jun;29(6):432-3.

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

Author information

  • 1Department 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
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for HighWire Icon for PubMed Central
    Loading ...
    Write to the Help Desk