AI Article Synopsis
- A 5-year-old boy with a specific chromosomal deletion (del(8)(p21-pter)) exhibited moderate facial abnormalities and developmental delays.
- Comparisons were made with 11 similar cases, revealing that partial deletion of chromosome 8p does not lead to a distinct set of physical characteristics.
- The study emphasizes the significance of cytogenetic analysis in diagnosing and understanding these types of genetic abnormalities.
Article Abstract
46, XY, del(8) (p21-pter) aberration was found in a 5 year old boy with moderate craniofacial dysmorphia, mental and somatic retardation. The cytogenetic and clinical features of the patient were compared to 11 cases found in the literature. Partial 8p monosomy does not produce a unique phenotypic alteration. Postnatal growth deficiency, craniofacial dysmorphia and mental retardation are the main and common characteristics of many structural autosomal aberrations. The importance of cytogenetic analysis in such cases is stressed.
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