Molecular cytogenetic characterization of terminal 14q32 deletions in two children with an abnormal phenotype and corpus callosum hypoplasia.
Eur J Hum Genet
; 16(6): 680-7, 2008 Jun.
Article
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| MEDLINE
| ID: mdl-18197200
ABSTRACT
Among previously reported cases of 14q terminal deletions, only 11 have dealt with pure terminal deletion of 14q (14q3-14qter) and the break points were mapped by fluorescent in situ hybridisation (FISH) or genotyping in only four of them. Thanks to a collaborative study on behalf of the 'Association des Cytogeneticiens de langue Française'(ACLF), we report two patients with terminal deletion of the long arm of chromosome 14, del(14)(q32.2) and del(14)(q32.32), diagnosed by subtelomere screening. In the two cases, a thick nuchal skinfold was detected by early ultrasound with normal prenatal karyotype. Their postnatal phenotype included large forehead, narrow palpebral fissures, epicanthic folds, upturned tip of the nose, narrow mouth and thin upper lip, microretrognathia, prominent earlobes, hypotonia, delayed psychomotor development and hypoplastic corpus callosum. By physical mapping using FISH, the size of the deletions was measured for patients 1 and 2 6.55+/-1.05 and 4.67+/-0.10 Mb, respectively. The paternal origin of the deleted chromosome 14 was established by genotyping of microsatellites for patient 1 and the phenotype of terminal del(14)(q32) was compared to maternal uniparental disomy 14.
Texto completo:
1
Banco de datos:
MEDLINE
Asunto principal:
Cromosomas Humanos Par 14
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Deleción Cromosómica
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Cuerpo Calloso
Límite:
Humans
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Male
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Newborn
Idioma:
En
Revista:
Eur J Hum Genet
Asunto de la revista:
GENETICA MEDICA
Año:
2008
Tipo del documento:
Article
País de afiliación:
Francia