PMC3681196_01
Dysmorphic features of patient described in this study. (A) Short webbed neck. (B) Large extremities, left talus valgus deformity, large penis and testes.
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Dysmorphic features have been described in Table 1 and can be seen in Figure 1.
PMC3681196_02
Characterization of the deletion: cytogenetic and molecular studies. (A) Conventional G-banding chromosome 22. The deleted chromosome is on the right. (B) CGH-array. Reduced dosage for probes is shown to the left of the control two-copy line and increased dosage is shown to the right.. Abbreviation: CGH, comparative genomic hybridization.
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The deletion was cytogenetically visible by conventional G-banding karyotype (Figure 2A). Technologies, Santa Clara, CA) was carried out to determine the size and extent of the deletion (Figure 2B).