Pericentric inversion of chromosome 9: an abnormal phenotype

Abstract

Pericentric inversion of chromosome 9 is considered a ba­lanced structural anomaly. More often cited as a rela­tive­ly common part of the normal human karyotype, this chromosomal rearrangement could correlate with in­fer­ti­lity, abortions and different abnormal clinical conditions. A 5-month-old infant was admitted to our hospital for poor feeding and loose stools. The physical examination revealed an underweight boy (under the fifth percentile) with pla­gio­ce­pha­ly, dysmorphic and low-set ears, hypertelorism, sad­dle nose and micrognathia. The abnormal phenotype also contained long limbs, arachnodactyly, pilonidal sinus and a systolic ejection murmur in the pulmonic area. He was unresponsive to auditory stimuli. The ENT exa­mi­na­tion described bilateral sensorineural hearing loss. Based on dysmorphic appearance and karyotyping of pe­ri­phe­ral, the case was classified as a pericentric inversion of chro­mo­some 9 (p11q13). Despite being categorized as a clinically in­si­gni­fi­cant variant to a cytogenetic finding, further research is still needed for the few cases where specific pathologies were associated with pericentric inversion of chromosome 9.