Chromosome 7 short arm deletion, 7p21----pter

Area of Science:

• Human Genetics
• Clinical Dysmorphology
• Pediatric Case Reports

Background:

• Monosomy 7p, a rare chromosomal abnormality, results from deletions on the short arm of chromosome 7.
• Understanding the phenotypic spectrum of 7p monosomy is crucial for diagnosis and genetic counseling.
• De novo deletions, occurring spontaneously, present unique challenges in genetic inheritance studies.

Observation:

• A five-month-old female infant presented with a de novo deletion in the short arm of chromosome 7 (46,XX,del(7)(p21----pter)).
• Key clinical features included trigonocephalus with craniosynostosis, a median bony forehead bulge, high palate, atrial septal defect, anal atresia with perineal fistula, ulnar-proximal thumb placement, and mild psychomotor delay.

Findings:

• The identified deletion del(7)(p21----pter) encompasses a significant portion of the 7p chromosome arm.
• The patient's constellation of congenital anomalies aligns with previously described features of 7p monosomy.
• Review of literature cases provides comparative data on the phenotypic variability of 7p monosomy.

Implications:

• This case expands the documented clinical spectrum associated with 7p deletions.
• Further research into the specific genes within the deleted region may elucidate genotype-phenotype correlations.
• Accurate diagnosis and genetic counseling are vital for families affected by 7p monosomy.