CORNELIA
DE LANGE SYNDROME ASSOCIATED WITH DE NOVO BALANCED ROBERTSONIAN
TRANSLOCATION, (45, XX, -13, -14, T (13Q; 14Q) -A CASE REPORT
Soni AL*,Al-Sawan
RMZ*, Al-Awadi SA**, Krishna Murthy DS**
*Farwaniya Hospital, Kuwait; ** Maternity Hospital,
Kuwait
Objective: Cornelia
de Lange syndrome (CdLS)[OMIM#122470] is a rare complex developmental
disorder characterized by somatic and cognitive retardation, characteristic
facial dysmorphysm & limb anomalies. Majority are sporadic. Multiple
modes of inheritance has been postulated. It is occasionally associated
with nonspecific chromosomal abnormalities posing difficulty in genetic
counseling.
Methods: A
newborn female child with marked congenital malformations was investigated
to diagnose and delineate the pathogenesis.The proband was born to healthy,
normal Kuwaiti parents with no family history of any congenital
malformation or other genetic defects.On examination , the proband
presented with cardinal features of CdLS.
Results: Cytogenetic
studies in the proband showed a balanced Robertsonian Translocation
-involving chromosome 13 and 14.The karyotype in the parents was normal.
Conclusion: In
about 10% of cases with CdLS chromosomal abnormalities involving different
chromosome have been documented. However, there is only one report of
translocation involving chromosomes 13 and 14. CdLS is believed to be an
autosomal dominant disorder, with most cases representing new mutation in a
currently unidentified gene. However, this finding has not been confirmed
unequivocally. Possible explanations for this discrepancy include gonadal
mosaicism, non-penetrance, imprinting effect, locus specific heterogeneity.