Chromosome 22q11.2 Deletion Syndrome

 

Chromosome 22q11.2 deletion syndrome - Patients have a promient nose with a squared nasal root and bulbous nasal tip. The philtrum is somewhat smooth and there is mandibular hypoplasia. The ears are low set, posteriorly rotated, and protuberant. Patients may have a spectrum of T-cell immune deficiency that may range from mild T-cell lymphopenia to an almost complete absence of T-cells resulting in a severe combined immune deficiency phenotype (complete DiGeorge)

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Chromosome 22q11.2 Deletion Syndrome