A Case of Chromosome 1q44 Deletion with Microcephaly and Multiple Congenital Anomalies / 대한주산의학회잡지
Korean Journal of Perinatology
;
: 95-99, 2014.
Artículo
en Coreano
| WPRIM
| ID: wpr-101634
ABSTRACT
The 1q terminal deletion syndrome is a rare chromosomal disorder which was first reported by Mankinen et al. in 1976. This disorder has shown to have broad and diverse clinical phenotypes. Specific phenotypes of 1q terminal deletion syndrome include microcephaly, seizures, psychomotor retardation, growth retardation, abnormalities of extremities, corpus callosum, heart and genitalia. Although this disorder has diverse clinical manifestations, almost all cases of 1q44 deletion syndrome have growth, psychomotor, and mental retardation and progressive microcephaly. The first diagnosis of 1q44 deletion syndrome in Korea was made by fluorescent in situ hybridization analysis in a 4-month-old girl with craniofacial anomalies, multiple congenital anomalies, and growth and psychomotor retardation. We report the second domestic case of 1q44 deletion syndrome with cleft palate, facial dysmorphism, single umbilical artery, foot abnormality, progressive microcephaly, growth and psychomotor retardation which was confirmed by microarray for comparative genomic hybridization. We also compare this case with previously reported cases of 1q44 deletion syndrome.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Fenotipo
/
Convulsiones
/
Cromosomas Humanos Par 1
/
Discapacidades del Desarrollo
/
Fisura del Paladar
/
Hibridación Fluorescente in Situ
/
Cuerpo Calloso
/
Análisis de Secuencia por Matrices de Oligonucleótidos
/
Trastornos de los Cromosomas
/
Diagnóstico
Tipo de estudio:
Estudio diagnóstico
Límite:
Femenino
/
Humanos
/
Lactante
País/Región como asunto:
Asia
Idioma:
Coreano
Revista:
Korean Journal of Perinatology
Año:
2014
Tipo del documento:
Artículo
Similares
MEDLINE
...
LILACS
LIS