A rare craniofacial anomaly associated with balanced reciprocal translocation between chromosome 1 and 7: a case report


  • Amit Antil Department of Orthodontics and Dentofacial Orthopaedics, Armed Forces Medical College, Pune, Maharashtra, India
  • Umesh Kumar Department of Orthodontics and Dentofacial Orthopaedics, Armed Forces Medical College, Pune, Maharashtra, India https://orcid.org/0009-0004-2063-4016
  • Saugat Ray Department of Orthodontics and Dentofacial Orthopaedics, Armed Forces Medical College, Pune, Maharashtra, India
  • Barun K. Chakrabarty Department of Pathology, Armed Forces Medical College, Pune, Maharashtra, India
  • Paresh Singhal Department of Pathology, Army Hospital (R & R), New Delhi, India




Balanced translocation, Microcephaly, Microstomia, Oligodontia, Retractile testis, Scrotal hypospadias


The occurrence of balanced reciprocal translocation of chromosome 1 and 7 is one of the rare anomalies. The present case report focuses on a case of 07-year-old male patient with craniofacial anomaly due to balanced reciprocal translocation of chromosome 1 and 7 manifesting as microcephaly, microstomia, oligodontia and scrotal hypospadias with bilateral retractile testis. The patient had severe retrognathic and hyperdivergent mandible along with multiple carious and unerupted permanent teeth. After complete oral prophylaxis of the patient, the restorations of all carious teeth were carried out. Extraction of root stumps under conscious sedation has been planned in later phase. The patient will further be followed up for orthodontic correction of maxillary and mandibular arches in all three planes keeping in view of the growth status of the patient. The present case report intends to provide an overview of the clinical and radiographical features of this rare anomaly who need a prolonged interdisciplinary management and long term follow up. Further, this will add value to the existing prevalence in the available literature.


Gribble SM, Prigmore E, Burford DC, Porter KM, Ng BL, Douglas EJ et al. The complex nature of constitutional de novo apparently balanced translocations in patients presenting with abnormal phenotypes. Journal of medical genetics. 2005;42(1):8-16.

Frankl SN, Shiere FR, Fogels HR. Should the parent remain with the child in the dental operatory? J Dent Child. 1962;29:150-63.

Growth reference data for 5-19 years (BMI for age 5-19 years). Available at: https://www.who. int/tools/growth-reference-data-for5to19years/ indicators/bmi-for-age. Accessed on 7 March, 2023.

Pindrik J, Molenda J, Uribe-Cardenas R, Dorafshar AH, Ahn ES. Normative ranges of anthropometric cranial indices and metopic suture closure during infancy. J Neurosurg Pediatr. 2016;25(6):667-73.

Bjork A. Prediction of mandibular growth rotation. Am J Orthod. 1969;55(6):585-99.

Holdaway RA. A soft-tissue cephalometric analysis and its use in orthodontic treatment planning. Part I. Am J Orthod. 1983;84(1):1-28.

Poot M, Haaf T. Mechanisms of origin, phenotypic effects and diagnostic implications of complex chromosome rearrangements. Mol Syndromol. 2015;6:110–34.

Sismani C, Kitsiou-Tzeli S, Ioannides M, Christodoulou C, Anastasiadou V, Stylianidou G, Papadopoulou E, Kanavakis E, Kosmaidou-Aravidou Z, Patsalis PC. Cryptic genomic imbalances in patients with de novo or familial apparently balanced translocations and abnormal phenotype. Molecular Cytogenetics. 2008;1(1):1-9.

Coccé MC, Alonso CN, Rossi JG, Bernasconi AR, Rampazzi MA, Felice MS et al. Cytogenetic and molecular findings in children with acute lymphoblastic leukemia: experience of a single institution in Argentina. Molecular Syndromol. 2015;6(4):193-203.

Bache I, Brondum-Nielsen K, Tommerup N. Genetic counseling in adult carriers of a balanced chromosomal rearrangement ascertained in childhood: experiences from a nationwide re-examination of translocation carriers. Genetics Med. 2007;9(3):185-7.

Horiike S, Taniwaki M, Misawa S, Nishigaki H, Okuda T, Yokota S et al. The unbalanced 1;7 translocation in de novo myelodysplastic syndrome and its clinical implication. Cancer. 1990;65(6):1350-4.

Wang L, Ogawa S, Hangaishi A, Qiao Y, Hosoya N, Nanya Y et al. Molecular characterization of the recurrent unbalanced translocation der (1;7) (q10; p10). Blood. 2003;102(7):2597-604.

Chuang L, Kuo PL, Yang HB, Chien CH, Chen PY, Chang CH et al. Prenatal diagnosis of holoprosencephaly in two fetuses with der (7) t (1;7) (q32; q32) pat inherited from the father with double translocations. Prenat Diagn. 2003;23:134-7.

Hook EB, Hamerton JL. The frequency of chromosome abnormalities detected in consecutive newborn studies-differences between studies-results by sex and by severity of phenotypic involvement. In: Hook EB, Porter IH, editors. Population Cytogenetics Studies in Humans. New York (NY): Academic Press. 1977;63-79.






Case Reports