"Essentially" pure trisomy 3q27 --> qter: further delineation of the partial trisomy 3q phenotype.

[wolf-hirschhorn syndrome]

Partial duplication 3 q is a well defined clinical entity characterized by growth retardation , cryptorchism , microcephaly , and characteristic dysmorphisms . Most patients present with large duplications or are associated with a second chromosomal imbalance , which makes the definition of the phenotype difficult . Here , we report on a 4 -year and 8 -month -old girl with pre- and postnatal measurements in the high normal range , developmental delay , minor dysmorphic features , and a de novo unbalanced 3 /4 translocation with trisomy 3 q 27 --> qter and monosomy of the subtelomeric region of 4 p . Conventional karyotyping , FISH with probes from the Wolf-Hirschhorn syndrome critical region and chromosome 4 p locus-specific probes , microsatellite marker-based haplotyping , and SNP microarray copy number analysis revealed a terminal 4 p deletion of less than 500 kb with a breakpoint distal to the Wolf-Hirschhorn syndrome critical region , a chromosome 3 q duplication of around 15 .3 Mb , with origin of the rearrangement in paternal meiosis . Thus , our case clearly characterizes the phenotype of pure partial duplication 3 q more exactly , and moreover , indicates that small chromosome rearrangements might lead to growth in the upper normal range or even cause overgrowth .

Diseases
Validation

Diseases presenting "partial duplication" symptom

canavan disease

monosomy 21

wolf-hirschhorn syndrome

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