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Congenital diaphragmatic hernia in a patient with tetrasomy 9p. 2005

Tiago Henriques-Coelho, and Natália Oliva-Teles, and M Luz Fonseca-Silva, and Dick Tibboel, and Hercília Guimarães, and Jorge Correia-Pinto
Division of Pediatric Surgery, Hospital de S. João, 4202-451 Porto, Portugal.

Tetrasomy of the short arm of chromosome 9 constitutes a rare condition resulting in a well clinically recognized syndrome. In our case, in addition to the characteristic phenotype at birth, the existence of a hernia-type Bochdalek diaphragmatic defect was found. Cytogenetic analysis revealed a nonmosaic case of an isochromosome of the entire short arm of chromosome 9 with no involvement of the heterochromatic region of the long arm: 47, XX, +i (9p). Because chromosome 9 contains several gene locus for enzymes and receptors of the retinoid pathway, this case potentially contributes to retinoid hypothesis in the etiology of congenital diaphragmatic hernia.

UI MeSH Term Description Entries
D007621 Karyotyping Mapping of the KARYOTYPE of a cell. Karyotype Analysis Methods,Analysis Method, Karyotype,Analysis Methods, Karyotype,Karyotype Analysis Method,Karyotypings,Method, Karyotype Analysis,Methods, Karyotype Analysis
D002899 Chromosomes, Human, Pair 9 A specific pair of GROUP C CHROMSOMES of the human chromosome classification. Chromosome 9
D005260 Female Females
D006548 Hernia, Diaphragmatic Protrusion of abdominal structures into the THORAX as a result of congenital or traumatic defects in the respiratory DIAPHRAGM. Diaphragmatic Hernia,Diaphragmatic Hernias,Hernias, Diaphragmatic
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000328 Adult A person having attained full growth or maturity. Adults are of 19 through 44 years of age. For a person between 19 and 24 years of age, YOUNG ADULT is available. Adults
D025063 Chromosome Disorders Clinical conditions caused by an abnormal chromosome constitution in which there is extra or missing chromosome material (either a whole chromosome or a chromosome segment). (from Thompson et al., Genetics in Medicine, 5th ed, p429) Autosomal Chromosome Disorders,Chromosome Abnormality Disorders,Chromosomal Disorders,Autosomal Chromosome Disorder,Chromosomal Disorder,Chromosome Abnormality Disorder,Chromosome Disorder,Chromosome Disorder, Autosomal,Chromosome Disorders, Autosomal,Disorder, Chromosomal,Disorder, Chromosome,Disorder, Chromosome Abnormality,Disorders, Chromosomal,Disorders, Chromosome
D065630 Hernias, Diaphragmatic, Congenital Protrusion of abdominal structures into the THORAX as a result of embryologic defects in the DIAPHRAGM often present in the neonatal period. It can be isolated, syndromic, non-syndromic or be a part of chromosome abnormality. Associated pulmonary hypoplasia and PULMONARY HYPERTENSION can further complicate stabilization and surgical intervention. Bochdalek Hernia,Congenital Diaphragmatic Hernia,Congenital Diaphragmatic Hernias,Morgagni Hernia,Morgagni's Hernia,Agenesis of Hemidiaphragm,Bochdalek Hernias,Congenital Diaphragmatic Defect,Morgagni Hernias,Morgagni's Hernias,Unilateral Agenesis of Diaphragm,Congenital Diaphragmatic Defects,Defect, Congenital Diaphragmatic,Defects, Congenital Diaphragmatic,Diaphragm Unilateral Ageneses,Diaphragm Unilateral Agenesis,Diaphragmatic Defect, Congenital,Diaphragmatic Defects, Congenital,Diaphragmatic Hernia, Congenital,Diaphragmatic Hernias, Congenital,Hemidiaphragm Ageneses,Hemidiaphragm Agenesis,Hernia, Bochdalek,Hernia, Congenital Diaphragmatic,Hernia, Morgagni,Hernia, Morgagni's,Hernias, Bochdalek,Hernias, Congenital Diaphragmatic,Hernias, Morgagni,Hernias, Morgagni's,Morgagnis Hernia,Morgagnis Hernias

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