Related Experiment Videos
Deletion of the proximal short arm of chromosome 8
R F Stratton1, D F Crudo, M Varela
1South Texas Genetics Center, San Antonio 78229.
Insights
This study details a boy with a chromosome 8 deletion causing cleft lip/palate and hypogonadism. The findings suggest the hereditary spherocytosis gene is located in the 8p11.1-8p11.2 region.
Area of Science:
- Human Genetics
- Clinical Medicine
- Molecular Biology
Background:
- De novo interstitial deletions of chromosome 8 can lead to complex phenotypes.
- Previous reports linked deletions in 8p11.1-8p21 to hypogonadotropic hypogonadism and hereditary spherocytosis (HS).
Observation:
- A 5-month-old male presented with a de novo interstitial deletion of chromosome 8 (8p21p11.2).
- Clinical manifestations included bilateral cleft lip and palate, and apparent hypogonadism.
- This patient exhibited no red blood cell abnormalities characteristic of HS.
Findings:
- The specific deletion in this patient refines the localization of genes associated with 8p deletions.
- The absence of hereditary spherocytosis in this case, despite a similar deletion region, suggests a more precise location for the HS gene.
Implications:
- This research helps to better understand the genotype-phenotype correlations for chromosome 8p deletions.
- The findings contribute to the genetic mapping of hereditary spherocytosis, potentially aiding in diagnosis and genetic counseling.
- Further investigation into the 8p11.1-8p11.2 region is warranted for identifying the specific HS gene locus.
Abstract:
We report on a 5-month-old boy with a de novo interstitial deletion of the proximal short arm of chromosome 8 (p21p11.2). He manifested bilateral cleft lip and palate, and apparent hypogonadism. Four previous case reports with similar deletions (p11.1p21) were associated with hypogonadotropic hypogonadism [Beighle et al., Hum Genet 38:113-121, 1977] and hereditary spherocytosis (HS) [Chilcote et al., Blood 6:156-159, 1987; Kitatani et al., Hum Genet 78:94-95, 1988; Lux et al., Nature 345:736-739, 1990]. Our patient has no demonstrable red blood cell abnormality, suggesting that the gene for HS is located in the region 8p11.1 to 8p11.2.