DiGeorge TUPLE 1/SHANK3 Probe

FMDC-13

DiGeorge syndrome, and a variety of congenital malformation syndromes including Velocardiofacial (VCFS) and Conotruncal Anomaly Face syndromes, share the phenotypic features covered by the acronym CATCH22 (Cardiac defects; Abnormal facies; Thymic hypoplasia; Cleft palate; Hypocalcaemia) and deletion of chromosome 22 at 22q11.2. The 22q13.3 deletion syndrome presents a recognisable phenotype characterised by hypotonia, delay or absence of expressive speech, moderate to profound mental retardation, normal to accelerated growth and mild dysmorphic features.

5 Tests, 10 Tests

Red/Green

Human

22q11.2/22q13.3

For Research Use Only. Not for use in diagnostic procedures.

Store at minus 20 centigrade

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