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Article

Cytogenetic, biochemical, and molecular analyses of a 22q13 deletion.

American journal of medical genetics - 15 Jul 1992

Phelan M C, Thomas G R, Saul R A, Rogers R C, Taylor H A, Wenger D A, McDermid H E

Abstract excerpt

We report on a 3-year-old boy with a terminal deletion of 22q. The activity of alpha-N-acetylgalactosaminidase was normal while arylsulfatase A activity was reduced. Molecular analysis demonstrated the lack of paternal alleles of D22S45 and D22S55.

Topics

Abnormalities, Multiple
Alleles
Cerebroside-Sulfatase
Child, Preschool
Chromosome Deletion
Chromosomes, Human, Pair 22
Fibroblasts
Hexosaminidases
Humans
Male
alpha-N-Acetylgalactosaminidase

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 1353666
DOI: 10.1002/ajmg.1320430524

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-1353666-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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