Abstract
Duplication of 17q21 → qter is associated with a clinically recognizable syndrome. The major features are: profound mental retardation; dwarfism; frontal bossing and temporal retraction; narrowing of the eyes; thin lips with overlapping of the lower lip by the upper lip; abnormal ears; cleft palate1. The region that appears to be responsible for the phenotype is 17q23 → qter2. Serothken et al. reported an infant mosaic for the duplication 17q21.1 → qter, their patient had many features suggestive of the 17q duplications syndrome except for the craniofacial dysmorphism3. We report an infant who was found to be mosaic for duplication 17q21 · qter who had none of the features associated with this syndrome. Our patient was the second child of a 24 year old mother and a 28 year old father. The pregnancy was complicated with an abnormal prenatal ultrasound that showed mild-moderate fetal ascites and mild pericardial effusion at 24 weeks gestation. Genetic amniocentesis for karyotype analysis showed: 46, XX, dup(17)(q21q25)[8]/46,XX[12]. Parental chromosomes were both normal. The patient was first seen by genetics at age one month. Karyotype analysis in leukocytes was done and reported to be normal. Chromosome analysis of cells derived from skin was done 4 months later after the patient was noted to have swelling of her extremities.
The fibroblast chromosome analysis came back abnormal: 46, XX, dup(17)(q21q25)[4]/46, XX[16], At twelve months of age the patient's weight, length and head circumference were on the 50th percentile with normal development. On examination she had: frontal bossing; narrow palpebral fissures; flat nasal bridge; epicanthal folds; short nose; pointed chin; short neck; toe nail hypoplasia. Some of the above described facial features were also present in her parents. The family history was negative for lymphedema. Our patient is the first reported case of dup 17q and dup 17q mosaicism with lymphedema and essentially normal phenotype.
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Descartes, M., Baldwin, L., Cosper, P. et al. Mosaicism for duplication of 17q21 · qter with lymphedema and normal phenotype. Genet Med 1, 68 (1999). https://doi.org/10.1097/00125817-199901000-00105
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DOI: https://doi.org/10.1097/00125817-199901000-00105