ABSTRACT
OBJECTIVE: To report a new case of de novo 7q deletion distal to q35. METHODOLOGY: Developmental, cytogenetic and audiological investigations were carried out in the assessment of this rare chromosomal condition. RESULTS: Moderate developmental delay, mild congenital microcephaly, growth retardation and conductive hearing impairment were found for this case of 46,XX,del(7)(q35). CONCLUSIONS: The phenotype of 7q terminal deletion is highly variable.
Subject(s)
Abnormalities, Multiple/genetics , Chromosome Deletion , Chromosomes, Human, Pair 7 , Developmental Disabilities/genetics , Growth Disorders/genetics , Hearing Loss, Conductive/genetics , Microcephaly/genetics , Female , Humans , Infant, Newborn , Karyotyping , PhenotypeABSTRACT
A patient with classical Prader-Willi syndrome was found to have a Robertsonian translocation 45,XY,t(13q15q)mat. On CBG banding, the translocation chromosome had a large centromere with one primary constriction. Using fluorescence in situ hybridisation, positive signals were obtained with chromosome 13 and chromosome 15 centromere probes, proving that the translocation was dicentric. NOR banding was negative in this chromosome, suggesting that the breakpoints were at 13p11 and 15p11. DNA studies showed that, while there was no deletion involving 15(q11-13), maternal uniparental disomy for chromosome 15 was present. We compare our findings with the five other cases of familial Robertsonian translocation PWS that have been reported.