Full mosaic monosomy 22 in a child with DiGeorge syndrome facial appearance.
We describe an abnormal premature male infant with mosaic monosomy of chromosome 22. He had a unique facial appearance, similar to those with DiGeorge syndrome, and hypertonicity, limitation of extension at major joints, and flexion contractures of all fingers. This rare chromosomal aberration has been reported previously in 6 cases, three of them being nonmosaic and three mosaic patients. There was a great variability of expression among the anomalies of these patients. However, the most common anomalies were in the face and joints. A correlation between the severity of expression and percent of monosomic cells was not clear.
Pinto-Escalante
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Laboratorio de Genética, Centro de Investigaciones Regionales Dr. Hideyo Noguchi, Universidad Autónoma de Yucatán, México. pescalan@tunku.uady.mx
Ceballos-Quintal
J M
JM
Castillo-Zapata
I
I
Canto-Herrera
J
J
D002892:Chromosomes, Human, Pair 22; D004062:DiGeorge Syndrome / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009006:Monosomy; D009030:Mosaicism