ABSTRACT
The cri du chat syndrome (CdCS) is a chromosomal deletion syndrome associated with a partial deletion of the short (p) arm of chromosome 5. We describe five children who were diagnosed to have CdCS by conventional cytogenetic analysis. The deletion was at 5p15 in four patients, whereas the fifth had a larger, more proximal deletion at 5p14. Fluorescence in situ hybridization (FISH) analysis confirmed the deletion of the CdCS critical region at 5p15.2. All five children had global developmental delay and dysmorphism with microcephaly. The other clinical features were variable. Since the clinical diagnosis of CdCS may not always be evident because of the phenotypic heterogeneity, cytogenetic analysis is necessary to establish the diagnosis and confirm that the deletion involves the CdCS critical region. This will enable early intervention which plays an important role in improving the outcome.
Subject(s)
Child , Child, Preschool , Chromosome Deletion , Cri-du-Chat Syndrome/diagnosis , Cri-du-Chat Syndrome/genetics , Cytogenetic Analysis/methods , Humans , In Situ Hybridization, Fluorescence/methodsABSTRACT
El presente trabajo se refiere a la deleción del brazo corto del cromosoma 5 responsable del Síndrome de Maullido de Gato o Cri Du Chat. Las deleciones son aberraciones cromosómicas no balanceadas y consisten en la perdida de un fragmento de un cromosoma, las mismas pueden ser terminales, intersticiales o en anillo. El efecto fenotípico de la deleción depende del cromosoma implicado y la longitud del segmento delecionado. La apreciación de esta aberración estructural generalmente se dificulta si se trata de deleciones terminales pequeñas o intersticiales. Se tomó una muestra de sangre periférica de un paciente para cultivo linfocitario a petición de médicos de asistencia debido a las características fenotípicas del paciente así como características del llanto y el estridor laríngeo posiblemente asociado acromosomopatías. La muestra se cultivó y procesó según las técnicas estandarizadas en nuestro laboratorio, como resultado del diagnóstico post-natal citogenético se evidenció una deleción terminal del brazo corto del cromosoma 5 en todas las metafases estudiadas (Línea pura) 46XY, del (5), (p15.1).
The following research deals with the missing of the chromosome five's short arm that causes the cry of the cat syndrome or "Cri Du Chat". The missings are unbalanced chromosomic aberrations that consist on the loss of a chromosome's fragment and they could be final, intersticial or in ring. The phenotype effect of the missing depends on the involved chromosome and the length of the missing segment. The assessment of this structural aberration is generally affected when dealing with short final or intersticial missings. A patient's peripheric blood sample was drawn for a lymphocytory culture as the request of assistant doctors due to the patient's phenotypical features, as well as the cry's characteristics and the laringeal whoop associated to chromosomopathies. The sample was processed and cultured according to the standard techniques in our lab. A final missing of the chromosome five's short arm in all the studied meta stages was proved as a result of the cytogenetic post-natal diagnosis.
Subject(s)
Humans , Male , Infant , Cri-du-Chat Syndrome/diagnosis , Cri-du-Chat Syndrome/genetics , Chromosome Deletion , Physical Examination , Signs and SymptomsABSTRACT
Antecedentes: El Síndrome de Cri du chat o síndrome de Lejeune, es una enfermedad rara que fue descrita por primera vez en 1963 por Jerome Lejeune, es una cromosomopatía que se caracteriza por un llanto similar al maullido de gato. Se debe a la deleción o supresión parcial o total del material genético en una parte del brazo corto del cromosoma 5. Este síndrome se caracteriza por una variedad de alteraciones físicas y psicomotoras. El análisis cromosómico proporciona el diagnóstico definitivo. Este paciente se presenta como un caso que reúne las características clínicas propias y la alteración cromosómica que caracterizan al síndrome y es el primer caso que se reporta en la literatura Hondureña. Caso clínico: Se presenta el caso de una paciente femenina que presentó llanto similar al maullido de gato en la niñez, con alteraciones físicas y psicomotoras características de este síndrome; por lo que se le realizó estudio citogenético que mostró una deleción terminal del brazo corto del cromosoma 5 (5p) compatible con un Síndrome de Cri du chat. Conclusión: El diagnóstico de esta patología se debe realizar lo mas tempranamente posible para ofrecerles a estos pacientes el manejo multidisciplinario necesario que les permita tener un desarrollo psicomotor y social adecuado...
Subject(s)
Female , Alprazolam/therapeutic use , /genetics , Cri-du-Chat Syndrome/diagnosis , Evaluation Study , Laboratory Test/methodsABSTRACT
Prenatal diagnosis of cri-du-chat syndrome is described in 2 pregnancies. In Case 1, the mother was a balanced translocation carrier and had 2 previously affected off springs. Prenatal diagnosis by chorion villus sampling and cordocentesis was successful in diagnosing an affected conceptus and the pregnancy was electively terminated. Case 2 was referred for nonimmune foetal hydrops and cordocentesis revealed deletion 5p. This second case was noteworthy for the fact that deletion 5p has not been reported to cause foetal hydrops.
Subject(s)
Chromosomes, Human, Pair 5 , Cri-du-Chat Syndrome/diagnosis , Fatal Outcome , Female , Genetic Counseling , Humans , Infant , Male , Pregnancy , Prenatal DiagnosisABSTRACT
Three cases of cri du chat syndrome with varying ages of presentation are compared and contrasted to highlight the clinical features and evolution of the phenotype with time.