Unbalanced segregation of a complex four-break 5q23-31 insertion in the 5p13 band in a malformed child.

doi:10.1038/sj.ejhg.5201150

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Article

Unbalanced segregation of a complex four-break 5q23-31 insertion in the 5p13 band in a malformed child.

European journal of human genetics : EJHG - 1 Jun 2004

Giardino Daniela, Finelli Palma, Amico Francesco Paolo, Gottardi Giulietta, Civa Rosa, Corona Giuseppina, Nocera Gianfranco, Larizza Lidia

Abstract excerpt

A rec(5)dup(5)(q23.2q31.3) inherited from a maternal ins(5)(p13.1q23.2q31.3) was detected in a 4-month-old male child who showed hypotonia, microcephaly, cardiac defects, pulmonary hypoplasia and stenosis, bilateral hydronephrosis, hydrocele, testicular hypoplasia and phimosis. Dysmorphisms were also observed. We compare the clinical characteristics of our patient with those of the previously reported dup5q cases...

Topics

Abnormalities, Multiple
Alu Elements
Child
Chromosome Banding
Chromosome Breakage
Chromosome Segregation
Chromosomes, Human, Pair 5
Gene Duplication
Gene Rearrangement
Humans
Karyotyping
Male
Phenotype

Source

Open in PubMed

Identifiers

PMID: 15054394
DOI: 10.1038/sj.ejhg.5201150

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