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PMID: 7906921 Published · ppublish English Case Reports Journal Article Research Support, Non-U.S. Gov't

Clinical, cytogenetic, and molecular characterization of seven patients with deletions of chromosome 22q13.3.

American journal of human genetics ·Vol. 54 ·No. 3 ·1994-03-00 ·Pages 464-72

Nesslinger NJ, Gorski JL, Kurczynski TW, Shapira SK, Siegel-Bartelt J, Dumanski JP, Cullen RF, French BN, McDermid HE

Abstract

We have studied seven patients who have chromosome 22q13.3 deletions as revealed by high-resolution cytogenetic analysis. Clinical evaluation of the patients revealed a common phenotype that includes generalized developmental delay, normal or accelerated growth, hypotonia, severe delays in expressive speech, and mild facial dysmorphic features. Dosage analysis using a series of genetically mapped probes showed that the proximal breakpoints of the deletions varied over approximately 13.8 cM, between loci D22S92 and D22S94. The most distally mapped locus, arylsulfatase A (ARSA), was deleted in all seven patients. Therefore, the smallest region of overlap (critical region) extends between locus D22S94 and a region distal to ARSA, a distance of > 25.5 cM.

MeSH Terms
Abnormalities, Multiple/genetics Child Chromosome Deletion Chromosome Mapping Chromosomes, Human, Pair 22 DNA/analysis,genetics Deoxyribonuclease EcoRI Deoxyribonuclease HindIII Female Genetic Markers Growth Humans Karyotyping Male Pedigree Polymorphism, Restriction Fragment Length
Chemicals
Genetic Markers DNA Deoxyribonuclease EcoRI Deoxyribonuclease HindIII
Authors & Affiliations
9 authors, click to expand affiliations / ORCID
Nesslinger N J
Department of Genetics, University of Alberta, Edmonton, Canada.
Gorski J L
Kurczynski T W
Shapira S K
Siegel-Bartelt J
Dumanski J P
Cullen R F
French B N
McDermid H E
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Article Info
Journal
American journal of human genetics
Abbr.
Am J Hum Genet
ISSN
0002-9297
Published
1994-03-00
Pages
464-72
Language
English
Region
United States
NLM ID
0370475
PMCID
PMC1918126
Subset
IM
External Links
PubMed source PMC Full Text View journal details
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