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 termin...

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Bibliographic Details
Published in:Pediatrics and neonatology 2008-10, Vol.49 (5), p.189-192
Main Authors: Su, Pen-Hua, Chen, Jia-Yuh, Chen, Suh-Jen, Tsao, Teng-Fu, Lai, Yu-Jie
Format: Article
Language:English
Subjects:
Abnormalities, Multiple
Child
chromosome 7q
Chromosome Deletion
Chromosomes, Human, Pair 7
deletion
Female
Humans
Internal Medicine
Pediatrics
sacral dysgenesis
Sacrum - abnormalities
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Summary: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.
ISSN:1875-9572
DOI:10.1016/S1875-9572(09)60007-3