Cleft palate in a newborn with duplication 2(q13q23).
OBJECTIVE
A preterm boy was born with multiple anomalies including cleft palate and ventricular septal defect. Chromosome analysis on a blood sample identified additional material within the long arm of chromosome 2.


METHODS
The newborn was in the neonatal intensive care unit requiring tertiary care during his 22 days of life.


RESULTS
A supplementary fluorescent in situ hybridization test was performed to confirm the extra chromosomal material was chromosome 2. Parents' chromosomes were normal, indicating a de novo duplication of 2q13q23.


CONCLUSIONS
Comparison of this case with those in the literature suggests involvement of cleft palate of cases with duplication of 2q13.
Wenger
Sharon L
SL
Department of Pathology, West Virginia University, P.O. Box 9203, Morgantown, WV 26506-9203, USA. swenger@hsc.wvu.edu
Bleigh
Ona C
OC
Hummel
Marybeth
M
D000015:Abnormalities, Multiple / Q000235:genetics*; D000782:Aneuploidy; D007446:Chromosome Inversion; D020223:Chromosome Painting; D002889:Chromosomes, Human, Pair 2; D002972:Cleft Palate / Q000235:genetics*; D017809:Fatal Outcome; D020440:Gene Duplication; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male