High resolution replication banding combined with in situ hybridization for the delineation of a subtle chromosome rearrangement.
Molecular cytogenetic techniques were used to delineate a subtle chromosome rearrangement in an infant with growth and psychomotor retardation, abnormal scalp hair pattern, narrow palpebral fissures, broad nasal bridge, bulbous nose, small nostrils, thin lips in a cupid's bow configuration, bilateral simian creases, and unilateral cryptorchidism. Analysis using GTG-banded chromosomes at about 400 band level showed no obvious abnormality. Prometaphase analysis at about 600 band level showed an extra band at 14q32 on GTG-banding. The father had the same extra band suggesting a reciprocal translocation but the second chromosome involved in the translocation could not be identified. High resolution replication banding on the father's lymphocytes showed a balanced reciprocal translocation 46,XY,rcp(8;14)(q24.1;q32.1). The translocation was confirmed by in situ hybridization with an immunoglobulin heavy chain probe which maps to 14q32.3. The infant therefore had duplication of 8q24.1----qter and deficiency of 14q32.1----qter. His phenotype resembled that of patients with partial duplications of the distal long arm of chromosome 8.
Qumsiyeh
M B
MB
Department of Pediatrics, University of Tennessee, Memphis 38163.
Wilroy
R S
RS
Peeden
J N
JN
Tharapel
A T
AT
D000015:Abnormalities, Multiple / Q000235:genetics; D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D002874:Chromosome Mapping / Q000379:methods; D002883:Chromosomes, Human, Pair 14; D002898:Chromosomes, Human, Pair 8; D015342:DNA Probes / Q000235:genetics; D002658:Developmental Disabilities / Q000235:genetics; D005260:Female; D006801:Humans; D007143:Immunoglobulin Heavy Chains / Q000235:genetics; D007231:Infant, Newborn; D008297:Male; D009693:Nucleic Acid Hybridization; D010641:Phenotype; D014178:Translocation, Genetic / Q000235:genetics*; D014314:Trisomy
D015342:DNA Probes; D007143:Immunoglobulin Heavy Chains