A de novo subtelomeric monosomy 11q (11q24.2-qter) and trisomy 20q (20q13.3-qter) in a girl with findings compatible with Jacobsen syndrome: case report and review.
Clin Dysmorphol
; 16(4): 231-9, 2007 Oct.
Article
en En
| MEDLINE
| ID: mdl-17786114
ABSTRACT
We report on a 2-year-old dysmorphic girl with prenatal and postnatal growth deficiency, cardiopathy, left-sided hydronephrosis due to pyelourethral junction stenosis, frequent respiratory infections and psychomotor retardation, in whom a de novo unbalanced submicroscopic translocation (11q;20q) was detected by subtelomeric multiplex ligation-dependent probe amplification and fluorescence in situ hybridization analyses. Additional fluorescence in situ hybridization studies with locus-specific BAC probes and analyses with microsatellite markers revealed that this translocation resulted in a paternal chromosome 11q terminal deletion of approximately 8.9 Mb and a subtelomeric 20q duplication of approximately 3.7 Mb. A subtelomeric 20q trisomy has only been reported in four cases so far. A subtelomeric 11q deletion has been clinically reported in 18 patients. We review the clinical phenotype of these patients. We suggest that patients with a subterminal (11q24.2/25-qter) deletion may present with features of the well-known phenotype of terminal 11q deletion or Jacobsen syndrome.
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Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Trisomía
/
Anomalías Múltiples
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Cromosomas Humanos Par 11
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Cromosomas Humanos Par 20
/
Telómero
/
Monosomía
Tipo de estudio:
Diagnostic_studies
Límite:
Adult
/
Child, preschool
/
Female
/
Humans
/
Infant
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Male
/
Newborn
Idioma:
En
Revista:
Clin Dysmorphol
Asunto de la revista:
TERATOLOGIA
Año:
2007
Tipo del documento:
Article
País de afiliación:
Bélgica