Neonate with 10q Interstitial Deletion within the Long Arm of Chromosome 10- A Case Report and Literature Review

Abstract

Introduction: Partial deletion of distal chromosome 10q was first reported in 1978 by Lewandowski1. Interstitial deletions within bands 10q25e10q26.3 are rare. Seven such cases were reported so far2. Patient Information: A term AGA male newborn was delivered at our perinatal center with antenatal diagnosis of unbalanced translocation of chromosomes 10 and 12, and fetal cleft lip and cleft palate. Blood was sent for chromosome analysis using GTG banding method. Baby had facial dysmorphism, left cleft lip, bilateral cleft of soft and hard palate, intact nasal septum, normal ears and micrognathus. Abdominal ultrasound showed absence of right testis in inguinal canal and abdomen (anorchia). Hospital course was unremarkable except for feeding problems requiring feeding team, plastic surgery planned at 2- 3 months of age, and taping of the cleft lip. He went home on day 7. Conclusion: Here, we reported an extremely rare case of a male newborn with an interstitial deletion within the long arm of chromosome 10 between bands 10q25.1 and 10q26.1, with dysmorphic features, along with a few unreported associations (atypical Pierre-Robin sequence and bilateral dorsal horn ventriculomegaly). We added a comprehensive review of literature on chromosome 10q deletions to the case report. We also listed clinical implications of 71 RefSeq and OMIM genes noted in that ~13.3Mb 10q deletion in the Appendix. Earlier detection of both common and rare chromosomal- genetic abnormalities might prepare the family and health care team to plan optimal care to the mother, and baby.