Clinical, cytogenetic, and molecular characterization of seven patients with deletions of chromosome 22q13. 3
- Univ. of Alberta (Canada)
- Univ. of Michigan, Ann Arbor, MI (United States)
- Medical College of Ohio, Toledo, OH (United States)
- Baylor College of Medicine, Houston, TX (United States)
- Hospital for Sick Children, Toronto (Canada)
- Miami Children's Hospital, Miami, FL (United States)
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.
- OSTI ID:
- 7285504
- Journal Information:
- American Journal of Human Genetics; (United States), Vol. 54:3; ISSN 0002-9297
- Country of Publication:
- United States
- Language:
- English
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