Partial trisomy 1q41-qter and partial trisomy 9pter-9q21.32 in a newborn infant: an array CGH analysis and review.
Am J Med Genet A
; 164A(2): 490-4, 2014 Feb.
Article
en En
| MEDLINE
| ID: mdl-24311106
ABSTRACT
We report on a girl who presented with distinctive abducted hip and hyperextended knee. Cytogenetic analysis detected an extra derivative chromosome resulting from a balanced translocation in the mother and 31 segregation. Using array comparative genomic hybridization (CGH) in combination with conventional high resolution GTG banding, we designate the karyotype as 47, XX, +der(9)t(1;9)(q41;q21.32)mat, indicating tertiary trisomy of chromosome segments 1q41-qter and 9pter-9q21.32. A review and genotype-phenotype correlation suggested that the patient represented most of the manifestations of duplication of chromosome arms 1q and 9p. To our knowledge, a similar case has so far not been reported.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Trisomía
/
Cromosomas Humanos Par 1
/
Cromosomas Humanos Par 9
Tipo de estudio:
Diagnostic_studies
/
Prognostic_studies
Límite:
Female
/
Humans
/
Newborn
Idioma:
En
Revista:
Am J Med Genet A
Asunto de la revista:
GENETICA MEDICA
Año:
2014
Tipo del documento:
Article
País de afiliación:
Turquía