Terminal 4q deletion syndrome.

Area of Science:

• Genetics
• Clinical Medicine
• Developmental Biology

Background:

• Terminal deletion of the long arm of chromosome 4 (4q) is a rare chromosomal abnormality.
• Phenotypic manifestations are diverse and depend on the specific chromosomal segment and quantity of lost chromatin.
• Deletions within the 4q31-q35 segment are associated with craniofacial anomalies, intellectual disability, and various other defects.

Purpose of the Study:

• To report a rare case of terminal deletion of chromosome 4q.
• To describe the specific clinical features and genetic findings in an affected infant.
• To contribute to the understanding of genotype-phenotype correlations in 4q deletion syndrome.

Main Methods:

• Karyotyping was performed on the patient to identify chromosomal abnormalities.
• Clinical examination and assessment of phenotypic manifestations were conducted.
• Genetic analysis focused on the specific deleted segment (4q31.2-35.2).

Main Results:

• A female infant (46, XX) with a terminal deletion of the 4q31.2-35.2 segment was identified.
• The patient presented with left-sided craniofacial hypoplasia, ipsilateral ptosis, erythroderma, and bilateral thumb anomalies.
• These findings are consistent with previously described features of 4q deletion syndrome, particularly those involving the 4q31-q35 region.

Conclusions:

• This case illustrates the phenotypic variability of 4q terminal deletions.
• The specific deletion 4q31.2-35.2 is associated with a distinct set of clinical features, including unilateral craniofacial hypoplasia and limb anomalies.
• Further studies are needed to fully elucidate the genetic basis and clinical spectrum of 4q deletion syndrome.