Monosomy 21

Monosomy 21 is a chromosomal anomaly characterized by the loss of variable portions of a segment of the long arm of chromosome 21 that leads to an increased risk of birth defects, developmental delay and intellectual deficit.

Micrognathia

Developmental hypoplasia of the mandible.


Total: 1

                       


(per page)
PMID (PMCID)
9370908
 MALE
Hypogammaglobulinaemia in a patient with ring chromosome 21.
Ohga S, Nakao F, Narazaki O, Fusazaki N, Aoki T, Kamesaki K, Hara T.
Arch Dis Child. 1997;77(3):252-4.
He presented with the characteristic features of monosomy 21 syndrome, such as psychomotor retardation, hypertonia, large saccular ears, prominent nasal bridge, micrognathia, thrombocytopenia, and patent ductus arteriosus.