Name: PubCaseFinder
License: http://creativecommons.org/licenses/by/2.1/jp/
Keywords: PubCaseFinder,PCF,Rare Disease,Phenotype,Gene,Match,Assist

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.

Prominent nasal bridge

Anterior positioning of the nasal root in comparison to the usual positioning for age.

Total: 1

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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.