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[Del (13) (q33). Exclusion of esterase D (ESD) from 13q33 and q34]
Annales De Genetique
|September 1, 1978
Insights
A new deletion on chromosome 13 (13q33) was identified in a boy with hypospadias and developmental delays. This finding helps refine the gene
Area of Science:
- Genetics
- Developmental Biology
- Clinical Medicine
Background:
- Chromosome 13 deletions can lead to various congenital anomalies.
- Understanding specific deletion regions is crucial for correlating genotype with phenotype.
Observation:
- A 14-month-old male presented with hypospadias and multiple dysmorphic features.
- Phenotypic anomalies included growth and psychomotor retardation, microcephaly with brachycephaly, and facial asymmetry.
Findings:
- A de novo deletion at chromosome 13q33 (del(13)(q33)) was detected.
- The patient was heterozygous for ESD 2-1, suggesting potential gene localization.
- This finding helps exclude ESD 2-1 from bands 13q33-q34 and may assign it to 13q31 or 13q32.
Implications:
- Refines the chromosomal localization of the ESD 2-1 gene.
- Contributes to understanding the genetic basis of developmental disorders.
- Aids in genetic counseling and diagnosis for similar cases.
Abstract:
A de novo del (13) (q33) was found in a 14-month-old boy with hypospadias. Phenotype anomalies included growth retardation, psychomotor retardation (QD = 64), microcephaly with brachycephaly, a round, flat and asymmetrical facies, a normal nose bridge, a small, pointed chin. The patient is heterozygous ESD 2-1. The gene localization may thus be excluded from bands 13q33 and q34 and assigned to bands q31 or q32, if its previous assignment to the q3 region is confirmed.