Clinical, cytogenetic, and molecular characterization of seven patients with deletions of chromosome 22q13.3.
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.
Nesslinger
N J
NJ
Department of Genetics, University of Alberta, Edmonton, Canada.
Gorski
J L
JL
Kurczynski
T W
TW
Shapira
S K
SK
Siegel-Bartelt
J
J
Dumanski
J P
JP
Cullen
R F
RF
French
B N
BN
McDermid
H E
HE
D000015:Abnormalities, Multiple / Q000235:genetics*; D002648:Child; D002872:Chromosome Deletion; D002874:Chromosome Mapping; D002892:Chromosomes, Human, Pair 22; D004247:DNA / Q000032:analysis / Q000235:genetics; D015246:Deoxyribonuclease EcoRI; D015247:Deoxyribonuclease HindIII; D005260:Female; D005819:Genetic Markers; D006128:Growth; D006801:Humans; D007621:Karyotyping; D008297:Male; D010375:Pedigree; D012150:Polymorphism, Restriction Fragment Length
D005819:Genetic Markers; D004247:DNA; D015246:Deoxyribonuclease EcoRI; D015247:Deoxyribonuclease HindIII