Back to Search
Start Over
Deletion of 2q37 and duplication of 10q24: Two cases in the same family and review of the literature
- Source :
- Annales de Génétique. 44:129-134
- Publication Year :
- 2001
- Publisher :
- Elsevier BV, 2001.
-
Abstract
- We describe two patients (first cousins, once removed) with an unusual head shape, high arched palate, flat nasal bridge, abnormal ears, hand and feet abnormalities and other anomalies. The patients were ascertained independently and it was initially unknown that they were related to each other. Cytogenetic and fluorescent in situ hybridization (FISH) analysis identified a der(2)t(2;10)(q37.3;q24.1) unbalanced translocation resulting in loss of 2q37.3-qter and duplication 10q24.1-qter. The clinical features of these two patients are compared with previously described cases of 2q deletion and 10q duplication. These patients also emphasize the difficulty in some families of understanding and sharing genetic information and in the difficulties in obtaining an accurate pedigree in a genetics clinic.
- Subjects :
- Male
medicine.medical_specialty
Adolescent
Foot Deformities, Congenital
Chromosomal translocation
Biology
Translocation, Genetic
Head shape
Gene Duplication
Gene duplication
Genetics
medicine
Humans
In Situ Hybridization, Fluorescence
Nose
Family Health
Hand deformity
medicine.diagnostic_test
Chromosomes, Human, Pair 10
Cytogenetics
Facies
Infant
Karyotype
Syndrome
medicine.disease
Chromosome Banding
Pedigree
medicine.anatomical_structure
Chromosomes, Human, Pair 2
Face
Karyotyping
Female
Chromosome Deletion
Hand Deformities, Congenital
Fluorescence in situ hybridization
Subjects
Details
- ISSN :
- 00033995
- Volume :
- 44
- Database :
- OpenAIRE
- Journal :
- Annales de Génétique
- Accession number :
- edsair.doi.dedup.....a7f1ea624810a53a6a58942b336867c8
- Full Text :
- https://doi.org/10.1016/s0003-3995(01)01083-8