Nail and phalangeal agenesis in a patient with 4pter and 9pter duplication.
Am J Med Genet A
; 158A(9): 2277-82, 2012 Sep.
Article
en En
| MEDLINE
| ID: mdl-22821638
ABSTRACT
We report on an 8-month-old girl with intra-uterine growth retardation, microcephaly, incomplete cleft lip, axial hypotonia, failure to thrive, and brachydactyly type B (phalangeal agenesis and absence of nails). She carried a supernumerary marker chromosome derived from chromosomes 4 and 9, leading to 4pter-q12 and 9pter-p21.2 duplication. The marker was derived from the 31 segregation of a maternal balanced translocation 46,XX, t(4;9)(q12;p21.2). The proposita is the first reported individual with distal phalangeal agenesis and anonychia, and trisomy 4p and partial trisomy 9p due to 31 segregation of a maternal reciprocal translocation.
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Cromosomas Humanos Par 4
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Cromosomas Humanos Par 9
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Duplicación de Gen
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Falanges de los Dedos de la Mano
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Uñas
Límite:
Female
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Humans
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Infant
Idioma:
En
Revista:
Am J Med Genet A
Asunto de la revista:
GENETICA MEDICA
Año:
2012
Tipo del documento:
Article
País de afiliación:
Francia