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Supernumerary marker chromosomes 5: confirmation of a critical region and resultant phenotype.

D'Amato Sizonenko, Loredana; Ng, Daniel; Oei, Paul; Winship, Ingrid.

Am J Med Genet ; 111(1): 19-26, 2002 Jul 22.

Article in English | MEDLINE | ID: mdl-12124728

ABSTRACT

A critical region exists at 5p13 for the phenotype associated with duplication 5p. Two unrelated Polynesian children are reported with supernumerary marker chromosomes (SMCs) 5. This brings to seven the total of reported SMCs derived from chromosome 5. The phenotype is clear, and the level of mosaicism of the marker chromosomes is contributory to the clinical severity.

Subject(s)

Abnormalities, Multiple/genetics , Chromosome Disorders/genetics , Chromosomes, Human, Pair 5/genetics , Intellectual Disability/genetics , Ring Chromosomes , Trisomy , Chromosome Banding , Chromosome Disorders/pathology , Clubfoot/genetics , Face/abnormalities , Fatal Outcome , Female , Humans , In Situ Hybridization, Fluorescence , Infant, Newborn , Male , Mosaicism , Phenotype

ABSTRACT

Subject(s)

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