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RESUMO

BACKGROUND: Cri du Chat syndrome (CdCS) is a genetic syndrome caused by deletions in the short arm of chromosome 5. Although the main clinical features of CdCS are well known, the neurocognitive and behavioural characteristics of the phenotype are rarely described in detail in the literature. In this study, we analysed the main phenotypic features of CdCS from a parental perspective. METHOD: A questionnaire was sent to 700 Brazilian families that were registered in the Brazilian Association of CdCS. The questions involved specific domains of CdCS, such as pregnancy and birth conditions, recurrence of the disease in the family, current major health problems, and aspects of cognitive development. RESULTS: In total, 73 questionnaires were completed: 44 females and 29 males, ranging from 9.5 months old to 40 years old (mean = 13.8 years; median = 12 years). Most of the parents noticed the typical cat-like cry at birth (94.4%). The age at diagnosis of CdCS ranged from the time of birth to 180 months (mean = 14 months; median = 6 months), while one case was diagnosed during pregnancy. In all of the cases, the diagnosis of CdCS was made by G-banding karyotype analysis. In 66.2% of the cases, the parents underwent cytogenetic investigation. A total of 52.1% of the parents answered that they did not remember what the recurrence risk of CdCS was in their family. The main health problems that were reported were as follows: swallowing problems (80.3%), feeding problems (80.3%), congenital heart disease (31.5%), spine abnormalities (28.8%), and neurological symptoms (20.5%), including seizures (11%). The behavioural problems that were reported were as follows: aggressive behaviour, stereotypies, anxiety, phobias, and genital manipulation/masturbation. Neurodevelopmental delay was reported in all of the cases. Independent walking was achieved in 72.2% of the patients. Approximately 50% of the patients never presented expressive language, and most of the patients are dependent on others for their daily activities. CONCLUSIONS: The questionnaire was a pioneer initiative in the CdCS support group, and the answers used in this study can improve the health care assistance to these patients because they focus attention on the demands from a parental perspective. In addition, nearly half of the families stated that they did not remember information regarding recurrence risk, which reinforces the importance of genetic counselling follow-up and the need for the expansion of genetic services in Brazil.

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RESUMO

Cri-du-chat syndrome is a chromosomal disorder caused by a deletion of the short arm of chromosome 5. The disease severity, levels of intellectual and developmental delay, and patient prognosis have been related to the size and position of the deletion. Aiming to establish genotype-phenotype correlations, we applied array-CGH to evaluate six patients carrying cytogenetically detected deletions of the short arm of chromosome 5 who were followed at a genetics community service. The patients' cytogenetic and clinical profiles were reevaluated. A database review was performed to predict additional genes and regulatory elements responsible for the characteristic phenotypic and behavioral traits of this disorder. Array-CGH analysis allowed for delineation of the terminal deletions, which ranged in size from approximately 11.2 Mb to 28.6 Mb, with breakpoints from 5p15.2 to 5p13. An additional dup(8)(p23) (3.5 Mb), considered to be a benign copy number variation, was also observed in one patient. The correlation coefficient value (ρ = 0.13) calculated indicated the presence of a weak relationship between developmental delay and deletion size. Genetic background, family history, epigenetic factors, quantitative trait locus polymorphisms, and environmental factors may also affect patient phenotype and must be taken into account in genotype-phenotype correlations.

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RESUMO

El propósito de este trabajo es describir el cuadro clínico y los resultados de la evaluación citogenética de una paciente en la que nuestro grupo ha encontrado un cromosoma anormal derivado de un reordenamiento cromosómico con intercambio de material entre el brazo corto de un cromosoma 5 y el brazo largo de un cromosoma 10. La madre de la paciente, por su parte, resultó tener los dos cromosomas anormales producto del reordenamiento, por lo cual no presenta síntomas. Clínicamente, la paciente mostró retardo mental, baja talla, microcefalia, dismorfias faciales y manos angostas. Los estudios cromosómicos revelaron en la madre una translocación recíproca [46,XX,t(5;10)(p15.3;q24)], y en la hija solamente el cromosoma 5 anormal derivado de la translocación [46,XX,der(5)t(5;10)(p15.3;q24)]. La paciente tiene una trisomía parcial del brazo largo del cromosoma 10, a la cual puede atribuírse el retardo mental y la mayoría de los rasgos físicos que presenta. Asismismo, ella tiene una monosomía parcial del brazo corto del cromosoma 5, que la ausencia de antecedentes del llanto agudo característico de las monosomías 5p con pérdida de las bandas 15.2 y 15.3 (síndrome del maullido) o 15.3 solamente (llanto similar a un maullido) permite suponer como distal a las mismas; ello deberá ser comprobado mediante estudios cromosómicos de alta resolución. Por fin, las referencias a múltiples individuos afectados en esta familia ameritan un estudio genealógico detallado, a fin de perfeccionar la descripción del síndrome, identificar probables portadores sanos y ofrecerles el asesoramiento genético correspondiente. (AU)

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