Partial monosomy 7 with interstitial deletions in two infants with differing congenital abnormalities

Area of Science:

• Human Genetics
• Cytogenetics
• Dermatoglyphics

Background:

• Interstitial deletions of chromosome 7 are rare chromosomal abnormalities.
• These deletions can involve either the short arm (7p) or the long arm (7q).
• Understanding the cytogenetic, dermatoglyphic, and clinical correlations is crucial for diagnosis and prognosis.

Observation:

• Two cases of interstitial chromosome 7 deletions are detailed: one affecting 7p13-7p21 and the other 7q11-7q21.
• The 7p deletion case exhibits distinct clinical features and a low total finger ridge count.
• The 7q deletion case lacks morphological abnormalities but presents with epilepsy and high dermal ridge patterns.

Findings:

• The patient with the 7p deletion shows clinical differences from previously reported cases, though shares a low total finger ridge count with one.
• The 7q deletion falls into a recognized group, but the patient's phenotype, including lack of malformations, differs from most reported cases.
• Epilepsy and high dermal ridge patterns were noted in the 7q deletion case, aligning with specific previous reports.

Implications:

• These cases expand the understanding of the phenotypic spectrum associated with interstitial chromosome 7 deletions.
• Detailed comparison with prior cases aids in refining genotype-phenotype correlations for 7p and 7q deletions.
• Further research is needed to fully elucidate the clinical significance and variability of these rare chromosomal aberrations.