A de novo subterminal trisomy 10p and monosomy 18q in a girl with MCA/MR: case report and review.
Eur J Med Genet
; 49(5): 402-13, 2006.
Article
em En
| MEDLINE
| ID: mdl-16488200
ABSTRACT
We report on a 3-year-old girl with psychomotor retardation, cardiopathy, strabismus, umbilical hernia, and facial dysmorphism in whom a de novo unbalanced submicroscopic translocation (10p;18q) was found by MLPA (Multiplex Ligation dependent Probe Amplification) and FISH analyses. Additional FISH studies with locus specific RP11 BAC probes and analyses with microsatellites revealed that the translocation resulted in a deletion estimated between 6 and 9 Mb on the maternal chromosome 18 and a subtelomeric 10p duplication of approximately 6.9 Mb. The proband's karyotype is 46,XX.ish der(18) t(10;18)(18pter-->18q2310p15 --> 10pter). A subterminal duplication of 10p, as well as a subterminal deletion of 18q have been rarely reported so far. The clinical phenotype of this patient is reviewed and discussed.
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Base de dados:
MEDLINE
Assunto principal:
Anormalidades Múltiplas
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Cromossomos Humanos Par 10
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Cromossomos Humanos Par 18
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Deleção Cromossômica
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Aneuploidia
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Deficiência Intelectual
Limite:
Child, preschool
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Female
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Humans
Idioma:
En
Ano de publicação:
2006
Tipo de documento:
Article