Two cases of partial trisomy 10q syndrome due to a familial 10;20 translocation.
Genet Couns
; 11(4): 355-61, 2000.
Article
en En
| MEDLINE
| ID: mdl-11140413
We describe an eleven day-old boy and his first degree double cousin who both have distal trisomy 10q syndrome. Their cytogenetic analysis using GTG-banding showed an unbalanced translocation 46, XY, -20, +der(20), t(10;20)(q22.3, p11) mat and 46, XX, -20, +der(20), t(10;20)(q22.3, p11) mat. The translocation was confirmed by FISH. We have found balanced translocation t(10;20)(q22.3; p11) with cytogenetic and FISH studies in the mothers and maternal grandfather of these children. Our cases had typical craniofacial and visceral anomalies of this syndrome. However case 1 had an agenesia of corpus callosum which was not previously described and case 2 had hypertrophied cardiomyopathy and cliteromegaly which were previously described as rare anomalies for this syndrome.
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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Translocación Genética
/
Trisomía
/
Anomalías Múltiples
/
Cromosomas Humanos Par 10
/
Cromosomas Humanos Par 20
Límite:
Adult
/
Female
/
Humans
/
Male
/
Newborn
Idioma:
En
Revista:
Genet Couns
Asunto de la revista:
ETICA
/
GENETICA MEDICA
Año:
2000
Tipo del documento:
Article
País de afiliación:
Turquía
Pais de publicación:
Suiza