Details

Autor(en) / Beteiligte

• Chaabouni, Myriam
• Turleau, Catherine
• Karboul, Lotfi
• Jemaa, Lamia Ben
• Maazoul, Faouzi
• Attié‐Bitach, Tania
• Romana, Serge
• Chaabouni, Habiba

Titel

De novo trisomy 20p of paternal origin

Ist Teil von

• American journal of medical genetics. Part A, 2007-05, Vol.143A (10), p.1100-1103

Ort / Verlag

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

Erscheinungsjahr

2007

Link zum Volltext

Quelle

Wiley Online Library - AutoHoldings Journals

Beschreibungen/Notizen

• We report on a case of a de novo trisomy 20p in a 5‐year‐old boy. The patient presented with dysmorphic features, mental retardation, poor coordination, cardiac malformation, kyphosis, hypospadias, cryptorchidism, and preaxial hexadactyly. No growth delay was noticed. Standard karyotype and FISH techniques allowed the characterization of the chromosome rearrangement showing a duplication spanning almost the whole short arm of chromosome 20. Therefore the karyotype was interpreted as 46,XY,der(20)(pter → q13.3::p11.2 → pter). Molecular studies identified the duplication of paternal origin. This is one of the rare reports with almost pure trisomy 20p characterized at the molecular level. Its phenotype is compared to other similar cases described in the literature. © 2007 Wiley‐Liss, Inc.