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Case Reports
. 1994 Mar;54(3):464-72.

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

N J Nesslinger  1 , J L Gorski, T W Kurczynski, S K Shapira, J Siegel-Bartelt, J P Dumanski, R F Cullen Jr, B N French, H E McDermid
Affiliations
Case Reports

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

N J Nesslinger et al. Am J Hum Genet. 1994 Mar.

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.

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