Trisomy 11p15 and Beckwith-Wiedemann syndrome. A report of two cases.

Abstract

Two patients with trisomy 11p15 and features of Beckwith-Wiedemann syndrome are reported. The first is a female infant with gigantism, macroglossia, abdominal hypotonia with umbilical hernia, moderate mental retardation, malformative uropathy, and atrial septal defect. Trisomy 11p15 was due to de novo duplication. The second patient was a stillborn (32-33 weeks pregnancy) with an abnormal tongue, posterior diaphragmatic eventration, inner organ congestion mainly of the adrenals. Trisomy 11p15 was due to a t(4;11)(q33;p14)pat. The association of trisomy 11p15 and Beckwith-Wiedemann syndrome is discussed with regard to cytogenetic data and the gene content of 11p, notably the genes coding for insulin and predisposition to Wilms tumour.

• Authors: C Turleau, J de Grouchy, F Chavin-Colin, H Martelli, M Voyer, R Charlas
• Journal: Human genetics (Hum Genet) Vol. 67 Issue 2 Pg. 219-21 ( 1984) ISSN: 0340-6717 [Print] Germany
• PMID: 6745943 (Publication Type: Case Reports, Journal Article)

Topics

• Beckwith-Wiedemann Syndrome (genetics)
• Child, Preschool
• Chromosome Banding
• Chromosomes, Human, 4-5
• Chromosomes, Human, 6-12 and X
• Female
• Humans
• Infant, Newborn
• Karyotyping
• Male
• Translocation, Genetic
• Trisomy