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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
De novo trisomy 20p of paternal origin
American Journal of Medical Genetics, Part A, Volume 143, No. 10, Year 2007
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Description
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.
Authors & Co-Authors
Chaabouni, Myriam
Tunisia, Tunis
Faculté de Médecine de Tunis
Turleau, Catherine
France, Paris
Hôpital Necker Enfants Malades
Karboul, Lotfi
Tunisia, Tunis
Université de Tunis el Manar, Hôpital D'enfants Béchir Hamza de Tunis
Ben Jemâa, Lamia
Tunisia, Tunis
Faculté de Médecine de Tunis
Maâzoul, Faouzi
Tunisia, Tunis
Faculté de Médecine de Tunis
Attié-Bitach, Tania
France, Paris
Hôpital Necker Enfants Malades
Romana, Serge Pierrick
France, Paris
Hôpital Necker Enfants Malades
Chaâbouni, Habiba Bouhamed
Tunisia, Tunis
Faculté de Médecine de Tunis
Statistics
Citations: 18
Authors: 8
Affiliations: 3
Identifiers
Doi:
10.1002/ajmg.a.31704
ISSN:
15524825
e-ISSN:
15524833
Research Areas
Health System And Policy
Noncommunicable Diseases
Participants Gender
Male