Raja Nandyal et al., IJCR, 2019 4:106 Case Report IJCR (2019) 4:106 International Journal of Case Reports (ISSN:2572-8776) Neonate with 10q Interstitial Deletion within the Long Arm of Chromosome 10- A Case Report and Literature Review Raja Nandyal1, Sara Hagan2 and Tavleen Sandhu3 1department of Pediatrics (Neonatology section), Oklahoma University Health Sciences Center, Oklahoma, USA; 2OU Medicine, Oklahoma University Health Sciences Center, Oklahoma, USA; 3department of Pediatrics (Neonatology section), Oklahoma University Health Sciences Center, Oklahoma, USA. ABSTRACT Introduction: Partial deletion of distal chromosome 10q was first Keywords: Chromosome 10 q reported in 1978 by Lewandowski1. Interstitial deletions within deletions, Interstitial deletions, Cleft bands 10q25e10q26.3 are rare. Seven such cases were report- lip and Cleft palate anomalies ed so far2. Patient Information: A term AGA male newborn was delivered at our perinatal center with antenatal diagnosis of *Correspondence to Author: unbalanced translocation of chromosomes 10 and 12, and fetal Raja Nandyal, MD: Professor of cleft lip and cleft palate. Blood was sent for chromosome analy- Pediatrics; Neonatology Section- sis using GTG banding method. Baby had facial dysmorphism, Department of Pediatrics, OUHSC; left cleft lip, bilateral cleft of soft and hard palate, intact nasal Women and Children’s Pavilion, septum, normal ears and micrognathus. Abdominal ultrasound Neonatology Offices, 1200 Everett showed absence of right testis in inguinal canal and abdomen Tower, 7th Floor, Oklahoma City, (anorchia). Hospital course was unremarkable except for feeding OK 73104, USA 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. How to cite this article: Conclusion: Here, we reported an extremely rare case of a Raja Nandyal, Sara Hagan and male newborn with an interstitial deletion within the long arm Tavleen Sandhu. Neonate with 10q of chromosome 10 between bands 10q25.1 and 10q26.1, with Interstitial Deletion within the Long dysmorphic features, along with a few unreported associations Arm of Chromosome 10- A Case (atypical Pierre-Robin sequence and bilateral dorsal horn ven- Report and Literature Review. Inter- triculomegaly). We added a comprehensive review of literature national Journal of Case Reports, on chromosome 10q deletions to the case report. We also listed 2019 4:106 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 eSciPub LLC, Houston, TX USA. the mother, and baby. Website: https://escipub.com/ IJCR: https://escipub.com/international-journal-of-case-reports/ 1 Raja Nandyal et al., IJCR, 2019 4:106 INTRODUCTION of chromosome 10 and 12 was suspected during the antenatal evaluation, prior to making the final In 1978 Lewandowski et al1, described the first diagnosis using GTG banding (Giemsa case of partial deletion of the long arm of 10 banding), on the infant’s blood. chromosome (10q). Since then, there have been more than 110 reported cases3 involving Clinical information was obtained from a terminal deletions on the chromosome 10q. The retrospective chart review. A case report was 14 possibility of a distinct distal 10q deletion prepared following the CARE guidelines . We syndrome (Online Mendelian Inheritance in did an extensive literature search on Man- OMIM 609625)4 was proposed by Chromosome 10 q- deletions, using PubMed, Wulfsberg et al in 1989 5, and was further OVID Medline and Scopus data bases. A endorsed by others including Irving6 et al in comprehensive review of the medical literature 2003. It has been noted that most terminal on both terminal and interstitial deletions of 10q deletions had breakpoints in bands 10q25 or is presented. 10q26. Also, it has been observed that 10q PATIENT INFORMATION deletions tend to have heterogeneous clinical A term male newborn was delivered by presentations. Commonly reported clinical spontaneous vaginal delivery under epidural features include growth restriction (intra-uterine anesthesia at our level IV perinatal center. and/or extra-uterine), dysmorphic facial Mother was a 32 year old gravida 3, para 2 features, cranial asymmetry, sensorineural Caucasian female with no prior medical hearing loss, vestibular dysfunction, skeletal problems. Pregnancy history was negative for anomalies, varying degrees of any other medical issues including gestational neurodevelopmental delays especially in diabetes, pre-eclampsia, thyroid disorders, cognitive and motor areas, cardiovascular, ano- epilepsy, neurological disorders, and substance 2, to 13 genital and genito-urinary anomalies . abuse including tobacco, alcohol, or recreational Among the Chromosome 10q deletion disorders, drugs. There was no reported consanguinity of interstitial deletions are exceedingly rare. Those, the parents. Paternal history was also negative interstitial deletions specifically within bands for substance abuse, and other medical 10q25e10q26.3 are exceptional. About 7 such disorders. Family history on paternal and cases of 10q interstitial deletions have been maternal sides was negative for cleft lip, cleft reported 2. palate, dysmorphic features, hearing loss, vision Here, we are reporting another very exceptional problems (no signs suggestive of Stickler case of a term male newborn, with a proven syndrome), thyroid disorders, growth disorders, interstitial deletion within the chromosome 10q intellectual deficits, neuro-development between bands 10q25.1 and 10q26.1, disorders, chromosomal or genetic associated with dysmorphic features, right abnormalities, skeletal, cardiac, and renal anorchia, and unreported associations such as abnormalities during childhood. Antenatal atypical Pierre-Robin sequence (micrognathia, diagnoses of suspected unbalanced bilateral cleft palate (not reverse “U” shaped), translocation of chromosomes 10 and 12, with and glossoptosis), cleft lip, and bilateral dorsal fetal cleft lip and cleft palate were made at our horn ventriculomegaly. Referral by an attentive perinatal center. primary Obstetrician from a nearby town, to our He had Apgar scores of 8 and 9 at 1 minute and perinatal center for the evaluation of antenatal 5 minutes of age, and had a birth weight of 3.5 cleft lip and cleft palate, and the diligence kilograms (58th%ile), length of 49.5 cm exercised by our maternal fetal medicine (37th%ile), and head circumference of 35 cm specialist, helped us to suspect a genetic (57th%ile). All growth parameters were condition, prenatally. Unbalanced translocation appropriate for gestational age (AGA). The baby IJCR: https://escipub.com/international-journal-of-case-reports/ 2 Raja Nandyal et al., IJCR, 2019 4:106 had dysmorphic features that included sloping 3 vessel cord, no abdominal organomegaly, right frontal region, normal anterior fontanel, cryptorchidism, patent anus and base visible hypertelorism, flattened nasal bridge, cleft lip on sacral dimple. Hospital course was remarkable the left with cleft of soft and hard palate, cleft of for feeding problems requiring feeding team, and the soft and hard palate on the right without cleft plastic surgery consult requiring taping of the lip (atypical Pierre-Robin sequence), intact nasal cleft lip with plans for surgery at 2- 3 months of septum, normal ears and micrognathus. Other age. Patient was discharged home on day 7. relevant findings included normal shaped chest, Parents declined to be tested. appropriately spaced nipples, no heart murmur, DIAGNOSTIC ASSESSMENT (Giemsa banding) was performed on peripheral The following investigations and consultations blood specimen of the baby (a technique used in were obtained during the infant’s hospital stay: cytogenetics to produce visible karyotype by a) an echocardiogram done on day 2 showed staining condensed chromosomes), h) trivial tricuspid regurgitation (TR) and no Chromosomal analysis revealed an abnormal structural heart defect, b) brain MRI done on day male chromosome complement in all cells 3, revealed dilated dorsal horns of lateral examined with an interstitial deletion within the ventricles with decompressed 3rd and 4th long arm of chromosome 10, between bands ventricles and prominent perivascular spaces, c) 10q25.1 and 10q26.1 (46, XY, passed hearing screening (both ears), d) del(10)(q25.1q26.1). Gene mapping results abdominal ultrasound showed absence of right showed a number of genes in the region of testis in inguinal canal and abdomen (anorchia), deletion. The size of the interstitial deletion is e) TSH and T4 were normal; blood glucose ~13.3Mb encompassing 71 RefSeq and OMIM screens were all normal, f) genetic, plastic genes (Refer to the image of the chromosome surgery, and speech therapy consultations were 10, and the supplement- appendix for the list of obtained, g) cytogenetic analysis- using genes in this deleted segment). standard procedures, routine GTG banding DISCUSSION IJCR: https://escipub.com/international-journal-of-case-reports/ 3 Raja Nandyal et al., IJCR, 2019 4:106 We are reporting an exceedingly rare case of a atypical Pierre- Robin sequence (bilateral “V” term male newborn with an interstitial deletion shaped cleft of soft and hard palates (not reverse within the long arm of chromosome 10, between “U-shaped), micrognathia and Glossoptosis), bands 10q25.1 and 10q26.1 (size ~13,3 Mb), cleft lip only