European Journal of Pediatrics

, Volume 162, Issue 2, pp 100–103

Interstitial deletion of chromosome 9, int del(9)(9q22.31-q31.2), including the genes causing multiple basal cell nevus syndrome and Robinow/brachydactyly 1 syndrome

Authors

  • Carla Olivieri
    • Biologia Generale e Genetica MedicaUniversità di Pavia
  • Paola Maraschio
    • Biologia Generale e Genetica MedicaUniversità di Pavia
  • Desiree Caselli
    • Dipartimento di PediatriaIRCCS "S.Matteo"
  • Carla Martini
    • Dipartimento di PediatriaIRCCS "S.Matteo"
  • Giampiero Beluffi
    • Sezione di Radiologia Pediatrica, Servizio di RadiodiagnosticaIRCCS "S.Matteo"
  • Emanuela Maserati
    • Genetica MedicaUniversità dell' Insubria
    • Genetica Medica
    • Biologia Generale e Genetica MedicaUniversità di Pavia
    • Servizio di Consulenza geneticaIRCCS "S.Matteo"
Original Paper

DOI: 10.1007/s00431-002-1116-4

Cite this article as:
Olivieri, C., Maraschio, P., Caselli, D. et al. Eur J Pediatr (2003) 162: 100. doi:10.1007/s00431-002-1116-4

Abstract

We report a child with a de novo interstitial deletion, 46,XY, int del(9)(9q22.31-q31.2). Cytogenetic and molecular analysis defined the boundaries of the lost region, of paternal origin, from D9S1796 to D9S938. The clinical picture included macrocephaly, frontal bossing, bilateral epicanthus, down-slanted palpebral fissures, low-set ears, hypoplastic nostrils, micrognathia, scoliosis, right single palmar crease, small nails, slender fingers, bilaterally flexed 5th finger, delayed bone age, abnormal metacarpophalangeal pattern (MCPP) profile and sole pits. No major malformation was recorded. The deleted region includes, among others, the PTCH and ROR2 genes. Mutations of the former cause the nevoid basal cell carcinoma syndrome (NBCCS) while mutations in the ROR2 gene have been found both in Robinow syndrome and in brachydactyly type 1B (BDB1). As the patient shows some clinical manifestation of both syndromes, we conclude that phenotypic changes related to haploinsufficiency of PTCH and ROR2 are recognisable in our patient even at a young age and in the presence of the more complex phenotype due to the deletion's large size. Thus the efforts to identify the genes included in a deletion are worthy as they may result in better care of the patient as, in this case, monitoring the possible development of tumours associated with NBCCS.

Keywords

NBCCSRobinow syndromeChromosome 9Chromosome deletionMetacarpophalangeal profile

Abbreviations

NBCCS

Nevoid basal cell carcinoma syndrome

BDB1

brachydactyly type 1B

MCPP

metacarpophalangeal pattern

STRPs

short tandem repeats

Copyright information

© Springer-Verlag 2003