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

The authors 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...

Full description

Saved in:
Bibliographic Details
Published inAmerican journal of human genetics Vol. 54:3
Main Authors Nesslinger, N.J., McDermid, H.E., Gorski, J.L., Kurczynski, T.W., French, B.N., Shapira, S.K., Siegel-Bartelt, J., Dumanski, J.P., Cullen, R.F. Jr
Format Journal Article
LanguageEnglish
Published United States 01.03.1994
Subjects
ANIMAL GROWTH
BASIC BIOLOGICAL SCIENCES
CHROMOSOMAL ABERRATIONS
CHROMOSOMES
DISEASES
GROWTH
HEREDITARY DISEASES
HUMAN CHROMOSOME 22
HUMAN CHROMOSOMES
MENTAL DISORDERS
MUTATIONS 550400 > Genetics
Online AccessGet full text

Cover

More Information
Summary:The authors 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. 38 rfs., 4 figs., 4 tabs.
Bibliography:None
ISSN:0002-9297
1537-6605