4p- syndrome and 9p tetrasomy mosaicism with cleft lip and palate.
J Craniomaxillofac Surg
; 28(3): 165-70, 2000 Jun.
Article
en En
| MEDLINE
| ID: mdl-10964553
Chromosome 4p- syndrome is a multiple malformation syndrome associated with partial deletion of the short arm of chromosome 4 (4p-). It is characterized by dysmorphic features and retarded development. Cleft lip and/or palate are the major clinical manifestations. Cases of tetrasomy 9p are extremely rare; the principal clinical manifestations of this condition are characteristic craniofacial abnormalities, generalized hypotonia and severe mental retardation. We present the first case of a female infant with 4p deletion and tetrasomy 9p mosaicism, exhibiting a left-sided cleft lip, alveolus and soft palate. Karyotype analysis of lymphocytes cultured from the patient revealed that she was mosaic: 86% of the cells were 46, XX, add (4) (p15.32) and 14% were 47, XX, add (4) (p15.32), +idic (9)(q12). The G-banding pattern appeared consistent with either translocation or partial proximal deletion of 4p. In order to make a definitive cytogenetic diagnosis of isodicentric chromosome 9, fluorescence in situ hybridization (FISH) was applied. At 8 months, when the patient weighed 4.3 kg, her cleft lip was repaired. Before and after surgery there were no seizures, and the postoperative course was uneventful.
Buscar en Google
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Anomalías Múltiples
/
Cromosomas Humanos Par 4
/
Cromosomas Humanos Par 9
/
Aberraciones Cromosómicas
/
Labio Leporino
/
Fisura del Paladar
Límite:
Female
/
Humans
/
Infant
Idioma:
En
Revista:
J Craniomaxillofac Surg
Asunto de la revista:
ODONTOLOGIA
Año:
2000
Tipo del documento:
Article
País de afiliación:
Japón
Pais de publicación:
Reino Unido