Sacral dysgenesis associated with terminal deletion of chromosome 7 (q36-qter).
We report on the clinical, cytogenetic, and imaging findings in a patient with a 7q terminal deletion. The 11-year-old girl had mental retardation, microcephaly, a distinctive face, relatively small hands and feet, and sacral dysgenesis. High resolution GTG banding (550-850 bands) showed a 7q terminal deletion. A detailed evaluation of associated malformations and the overall clinical picture should be taken into account when identifying the underlying diagnosis in cases of sacral dysgenesis with mental retardation.
Su
Pen-Hua
PH
Division of Genetics and Department of Pediatrics, Chung Shan Medical University Hospital, Taichung, Taiwan.
Chen
Jia-Yuh
JY
Chen
Suh-Jen
SJ
Tsao
Teng-Fu
TF
Lai
Yu-Jie
YJ
D000015:Abnormalities, Multiple; D002648:Child; D002872:Chromosome Deletion; D002897:Chromosomes, Human, Pair 7; D005260:Female; D006801:Humans; D012447:Sacrum / Q000002:abnormalities*