Prenatal diagnosis for a fetus with 5p deletion syndrome / 中华医学遗传学杂志

OBJECTIVE@#To explore the genetic basis for a fetus with club foot detected upon mid-pregnancy ultrasonography.@*METHODS@#Amniotic fluid of the fetus and peripheral blood samples of its parents were collected and subjected to G-banding karyotype analysis and copy number variation sequencing (CNV-seq). The result was verified by fluorescence in situ hybridization (FISH).@*RESULTS@#The fetus and its parents all had a normal karyotype. CNV-seq analysis revealed that the fetus has harbored a 23.12 Mb on chromosome 5 and a 21.46 Mb duplication on chromosome 7. FISH assay has verified that its mother has carried a cryptic t(5;7)(p14.3;q33) translocation.@*CONCLUSION@#CNV-seq combined with FISH can effectively detect cryptic chromosome aberrations, and can help to reduce severe birth defects and provide a basis for prenatal genetic counseling.

A síndrome de Cri Du Chat em adolescentes / The Cri du Chat syndrome in adolescents

Introdução: A síndrome do miado do gato ou síndrome 5p é uma doença congênita rara causada por uma anormalidade cromossômica. Relato do caso: Apresentamos o caso de uma paciente de 13 anos com características dismórficas leves. O retardo mental era grave, com comportamento mal adaptativo e hiperatividade. O diagnóstico citogenético da anormalidade cromossômica 46 XX del 5pter-->p13 foi estabelecido. Conclusão: O diagnóstico precoce dessa doença é necessário para a qualidade de vida dos pacientes, mas esse diagnóstico é difícil de ser realizado em pacientes que foram vistos, pela primeira vez, em idade mais avançada.

Introduction: Cat cry syndrome or 5p- syndrome is a rare congenital disease caused by a chromosomal abnormality. Case report: The case of a thirteen-year-old female patient with mild dysmorphic features is presented. Mental retardation is severe, with maladaptive behavior and hyperactivity. The cytogenetic diagnosis of chromosomal abnormality karyotype 46 XX del 5pterp13 has been established. Conclusions: We concluded that early diagnosis of this disease is necessary for patients' quality of life, but this diagnosis is difficult to make in patients who were first seen at an older age.

Difficult intubation caused by an immature upper airway in a patient with cri-du-chat syndrome: a case report

Cri-du-chat syndrome (CdCS) is caused by the deletion of the short arm of chromosome 5. Most patients with CdCS develop intellectual disabilities. Therefore, they have poor oral hygiene and a high caries index. However, treating such patients is not an easy task, because of the difficulty in communication. General anesthesia may be a useful option in adult patients with CdCS and intellectual disability. General anesthesia should be administered very carefully, owing to the presence of comorbid diseases, which may need airway management. Infants with CdCS need general anesthesia if they have a concomitant cardiac anomaly. Intubation is reportedly difficult for such patients was, owing to the structural and functional abnormalities in the larynx and vocal cords. The purpose of this study was to report a case of difficult intubation while inducing general anesthesia in a patient with CdCS during dental treatment, due to a narrow larynx and trachea.

Síndrome de Cri du chat: primer reporte en mosaico en el suroccidente colombiano / Cri du chat syndrome: first report of mosaicism in the colombian southwest

El síndrome de Cri du chat es una alteración cromosómica causada por deleciones en el brazo corto de cromosoma 5, las cuales varían en tamaño, desde muy pequeñas que comprometen solo el locus 5p15.2, hasta la pérdida de todo el brazo corto. Las mutaciones se originan de novo en el 80% a 90% de los casos. Existen dos regiones críticas para el síndrome de Cri du chat; una ubicada en 5p15.3, cuya deleción se manifiesta con el llanto de maullido de gato y retraso en el habla, y otra ubicada en 5p15.2, cuya deleción se manifiesta como microcefalia, hipertelorismo, retraso psicomotor y mental severo. Se han descrito varios genes implicados localizados en estas regiones críticas; entre ellos, TERT, SEMA5A, CTNND2 y MARCHF6, cuya haploinsuficiencia se asocia con los diferentes fenotipos del Cri du chat. En este artículo se describe el caso clínico de una paciente femenina de 8 meses de vida, con características clínicas y un análisis citogenético en mosaico que confirmaron el síndrome de Cri du chat. Este caso es el primero reportado de esta variante en el suroccidente colombiano.

Cri du chat syndrome is a chromosomal disorder caused by deletions in the short arm of chromosome 5, which vary in size, from very small and involving only the 5p15.2 locus, to the loss of the entire short arm. Mutations originate de novo in 80% to 90% of cases. There are two critical regions for Cri du chat syndrome; one located at 5p15.3 with a deletion that is manifested as a cat's cry and speech delay, and another located at 5p15.2 with a deletion that manifests as microcephaly, hypertelorism, severe psychomotor and mental retardation. Several involved genes located in these critical regions have been described; among them, TERT, SEMA5A, CTNND2 and MARCHF6, and whose haploinsufficiency is associated with the different phenotypes of Cri du chat. This article describes the clinical case of an 8-monthold female patient, with clinical characteristics and a mosaic cytogenetic analysis that confirmed Cri du chat syndrome. This case is the first reported of this variant in southwestern Colombia.

Pontine Hypoplasia and Cri-du-chat Syndrome in a Preterm Infant / 고신대학교의과대학학술지

A premature infant with gestational age 36⁺⁴ weeks was admitted with respiratory distress syndrome. Surfactant and ventilation were firstly done to improve his respiration. After extubation, weak, high-pitched cry and asymmetric face with micrognathia and hypertelorism were detected. Therefore, cytogenetic analysis was performed, and his karyotype was 46, XY, del(5) (p14p15.33). Pontine hypoplasia was detected on cranial magnetic resonance imaging (MRI). Therefore, karyotyping and cranial MRI should be performed in case of preterm infants with suspicion of Cri-du-chat syndrome (CdCS).

Application of array comparative genomic hybridization in prenatal diagnosis of a case with 5q35 deletion syndrome / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To use combined G-banding and array-comparative genomic hybridization (aCGH) for the prenatal diagnosis of a fetus with 5q35 deletion syndrome.</p><p><b>METHODS</b>Chromosomal karotypes of the fetus and parents were analyzed with G-banding analysis. aCGH was performed to detect minor chromosomal structural abnormalities.</p><p><b>RESULTS</b>The karyotype of the fetus was ascertained as 46, XY, t(5;10)(q35;p13), and the karyotypes of the parents were normal. aCGH has identified a de novo 1.68 Mb deletion at 5q35.2q35.3 and a 1.44 Mb duplication at 10p14p13.</p><p><b>CONCLUSION</b>aCGH has a higher resolution and greater accuracy for mapping chromosomal aberrations and is a useful supplement for G banding karyptyping analysis.</p>

Prenatal diagnosis of 5p deletion syndrome: A case series report

5p deletion syndrome, also known as Cri-du-Chat syndrome, is a chromosomal abnormality caused by a deletion in the short arm of chromosome 5. Clinical features of 5p deletion syndrome are difficult to identify prenatally by ultrasound examination, thus most cases of 5p deletion syndrome have been diagnosed postnatally. Here, we report eight cases of 5p deletion syndrome diagnosed prenatally, but were unable to find common prenatal ultrasound findings among these cases. However, we found that several cases of 5p deletion syndrome were confirmed prenatally when karyotyping was performed on the basis of abnormal findings in a prenatal ultrasound scan. Hence, it is necessary to carefully perform prenatal ultrasonography for detection of rarer chromosomal abnormalities as well as common aneuploidy.

Establishment of Primary Adult MDS Nested Case-Control Study Cohort and Study of Risk Factors Associated with MDS Evolution to Leukemia / 中国实验血液学杂志

<p><b>OBJECTIVE</b>To establish a nested case-control study cohort in myelodysplastic syndrome (MDS) patients and investigate the clinical characteristics, WHO subtype and risk factors associated with MDS evolution to leukemia of this cohort.</p><p><b>METHODS</b>All patients, ≥18 years of age, provided by 24 Shanghai hospitals with initial clinical findings consistent with a hematopoietic abnormality between June 2003 and April 2007, were the candidates for inclusion in this study. The blood and bone marrow samples of every patient should be provided at baseline. Diagnosis was made by incorporating morphologic, immunophenotypic, cytogenetic and molecular features according to WHO classification criteria. Cytogenetic analysis was performed using conventional G-banding karyotyping and fluorescence in situ hybridization (FISH) techniques. Cumulative risk of evolution was estimated by Kaplan-Meier method. Prognostic factors were evaluated by univariate Log-rank method and multivariate Cox proportional hazard models.</p><p><b>RESULTS</b>A total of 435 patients were diagnosed as MDS. The median age of MDS onset was 58(18-90) years, with 248 male patients and 187 female patients (male: female 1.33: 1). The percentage of cases with refractory cytopenia with multilineage dysplasia (RCMD) was the highest (65.5%), while that of refraetory anemia (RA) (2.3%), refractory anenia with ring sideroblast (RARS) (1.1%) and 5q-syndrome (0.5%) was lower. Trisomy 8 (+8) was the most common chromosome abnormalities (71 cases, 12.7%). The mean follow-up time was 20.3 (4.2-57.1) months. Cases were patients with evolution by the end of follow-up, while controls were patients without evolution by that time. Case group included 41 patients and control group included 342 patients. Univariate analysis showed that the age, sex, WHO subtype, WBC count, absolute neutrophil count (ANC), IPSS cytogenetic subgroup, IPSS group and bone marrow blast percentage were significant risk factors for leukemia-free survival (LFS). Multivariate analysis of COX model showed that the age, sex, WHO subtype, IPSS cytogenetic subgroup and bone marrow blast were independent risk factors for LFS.</p><p><b>CONCLUSION</b>A nested case-control study cohort of MDS patients is established. The clinical characteristics and WHO subtype of MDS patients in Chinese Shanghai are different from that in Western countries. The independent risk factors for MDS evolution are age, sex, WHO subtype, IPSS cytogenetic subgroup and bone marrow blast percentage.</p>

Lack of Myelination in the Anterior Limbs of the Internal Capsule Associated with Cri-du-Chat Syndrome: Case Report

A 21-month-old girl with cri-du-chat syndrome in conjunction with developmental delay underwent brain magnetic resonance imaging (MRI). The MRI showed hypoplasia of the brain stem, a normal cerebellum, thinning of the corpus callosum, and a lack of myelination in both anterior limbs of the internal capsule. She also had neonatal bilateral subependymal cysts. We believe that the symmetrical lack of myelination in both anterior limbs of the internal capsule could be a diagnostic clue of cri-du-chat syndrome.

Cytogenetic and molecular genetic diagnosis of a neonate with partial 13q trisomy and partial 5p monosomy / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To diagnose a neonate presenting with multiple dysmorphic features, Cri-du-chat signs and hypoglycemia and to correlate the phenotype with the genotype.</p><p><b>METHODS</b>The patient was diagnosed with conventional cytogenetics and real-time fluorescence quantitative PCR (QF-PCR). The phenotype was then correlated with the genotype through a review of literature.</p><p><b>RESULTS</b>The neonate was diagnosed with a partial 13q trisomy (q12 → qter) and partial 5p monosomy (p15 →pter).</p><p><b>CONCLUSION</b>A rare diagnosis has been established with combined cytogenetic and molecular genetic techniques. QF-PCR has a broad application in genetic diagnosis.</p>

Cri-du-Chat syndrome: conservative dental treatment in an 8-year old child / Síndrome de Cri-du-Chat: tratamento odontológico conservador em uma criança de 8 anos de idade

O objetivo deste artigo é relatar o caso de uma paciente de 8 anos de idade com a síndrome do miado do gato (CdCS) que foi encaminhada à clínica de odontopediatria para tratamento odontológico de urgência. As principais queixas eram uma lesão traumática nos incisivos centrais superiores permanentes e dificuldade em realizar a higiene oral. A paciente foi extremamente cooperativa durante a avaliação clínica, demonstrando capacidade de colaborar com opções de tratamentos conservadores sob anestesia local. O exame clínico mostrou overjet acentuado, lesões de cárie e uma higiene oral muito pobre. Avaliações clínicas e radiográficas foram necessárias para diagnosticar e determinar estratégias de tratamento das lesões traumáticas, lesões de cárie e gengivite, as quais foram realizadas ao longo de cinco consultas odontológicas. Os desfechos do tratamento são descritos. Este caso ilustra a variedade de achados clínicos que os odontopediatras podem encontrar na cavidade oral e face de pacientes com CdCS e os problemas que essas alterações podem causar. No atendimento desses pacientes, os dentistas devem tentar fornecer o melhor tratamento possível, priorizando o uso de técnicas conservadoras.

The aim of this article was to report the case of an 8-year old patient with Cri-du-Chat syndrome (CdCS) referred to the pediatric dental clinic for urgent dental treatment. The chief complaints were a traumatic injury to both permanent maxillary central incisors and difficulty performing oral hygiene. The patient was extremely cooperative during clinical evaluation, demonstrating ability to withstand conservative treatment options. Dental examination revealed accentuated overjet, carious lesions, and very poor oral hygiene. Clinical and radiographic evaluations were necessary to diagnose and determine treatment strategies for the traumatic injuries, carious lesions, and gingivitis, which were implemented over a total of five dental visits. Outcomes of the treatment strategies adopted are described. This case report illustrates the variety of clinical findings that pediatric dentists may encounter in the oral cavity and face of patients with CdCS and the problems that these alterations may cause. When faced with a CdCS patient, dentists should try to provide the best treatment possible and prioritize the use of conservative techniques.

Intervenção da Terapia Ocupacional na Síndrome de Cri-du-Chat: estudo de caso / Occupational Therapy Intervention in a child with Cri-du-Chat Syndrome: a case study

A Síndrome de Cri-du-Chat é uma anomalia cromossômica que pode resultar em diversos acometimentos, incluindo atraso no desenvolvimento neuropsicomotor e deficiência intelectual. Este estudo de caso descreve a intervenção terapêutica-ocupacional com uma criança com Síndrome de Cri-du-Chat que foi acompanhada em atendimentos semanais, em um hospital escola do interior paulista entre 2 e 4 anos de idade. Para descrição do caso foram utilizados os registros no prontuário, relatos de familiares, bem como os dados dos atendimentos de Terapia Ocupacional. Na avaliação inicial identificou-se que a criança era hipotônica, ficava em pé com apoio e explorava objetos levando-os à boca. Os objetivos terapêutico-ocupacionais pautaram-se na estimulação das habilidades de desempenho sensório-motoras (processamento perceptual, neuro-músculo-esquelético e motor) e de integração cognitiva e componentes cognitivos (espectro de atenção, sequenciamento, aprendizado), por meio da estimulação do faz de conta e participação nas atividades de vida diária. Além de tais aspectos, foi necessário intervir diretamente no contexto escolar e familiar da criança, orientando os pais a evitar a superproteção. Por meio do trabalho conjunto entre equipe multiprofissional e familiares foi possível contribuir para a melhora das funções do corpo, possibilitando ampliação das atividades e participação, considerando os fatores pessoais e ambientais da criança, com consequente alta dos atendimentos ambulatoriais de Terapia Ocupacional.

Cri-du-Chat syndrome is a chromosomal abnormality that can result in several damages including developmental delay and intellectual disability of the affected child. This case study describes the occupational therapy intervention in a child with Cri-du-chat syndrome that was followed from two to four years old, in weekly sessions, at a school hospital in the state of São Paulo. Data from medical records, family reports, and occupational therapy sessions were used for case description. The initial assessment showed that the child was hypotonic, stood up only with support, and explored objects by taking them to the mouth. Occupational Therapy assistance aimed to stimulate sensorimotor performance skills (perceptual, neuromuscleskeletal and motor processing) and cognitive integration and components (attention spectrum, sequencing, and learning), through make-believe activities and participation in the activities of daily living (ADL). Moreover, it was also necessary to intervene directly in the school context and the child?s family, advising parents to avoid overprotection. Through the joint effort of the multidisciplinary team and the child?s family, it was possible to contribute to the improvement of bodily functions, allowing an increase in activities and participation, considering the child?s personal factors and environmental conditions, with consequent discharge from ambulatory attendance of occupational therapy.

Brain Stem Hypoplasia Associated with Cri-du-Chat Syndrome

Cri-du-Chat syndrome, also called the 5p-syndrome, is a rare genetic abnormality, and only few cases have been reported on its brain MRI findings. We describe the magnetic resonance imaging findings of a 1-year-old girl with Cri-du-Chat syndrome who showed brain stem hypoplasia, particularly in the pons, with normal cerebellum and diffuse hypoplasia of the cerebral hemispheres. We suggest that Cri-du-Chat syndrome chould be suspected in children with brain stem hypoplasia, particularly for those with high-pitched cries.

Anesthetic experience of a patient with cri du chat syndrome / 대한마취과학회지

No abstract available.

Analysis of copy number variations in an infant with Cri du Chat syndrome by array-based comparative genomic hybridization / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To analyze genomic copy number variations in an infant with Cri du Chat syndrome, and to explore the underlying genetic cause.</p><p><b>METHODS</b>G-banding analysis was carried out on cultured peripheral blood sample from the patient. Copy number variation analysis was performed using microarray comparative genomic hybridization, and the result was verified with fluorescence in situ hybridization.</p><p><b>RESULTS</b>The infant was found to have a 46, XY, der(5) (p?) karyotype. By microarray comparative genomic hybridization, a 23.263 Mb deletion was detected in 5p14.2-p15.3 region in addition to a 14.602 Mb duplication in 12p31 region. A derivative chromosome was formed by rejoining of 12p31 region with the 5p14.2 breakpoint. The patient therefore has a karyotype of arr cgh 5p15.3p14.2 (PLEKHG4B>CDH12)× 1 pat, 12p13.33p13.1 (IQSEC3>GUC Y2C)× 3 pat. Loss of distal 5p and gain of distal 12p were verified with fluorescence in situ hybridization.</p><p><b>CONCLUSION</b>The Cri du Chat syndrome manifested by the patient was caused by deletion of distal 5p from an unbalanced translocation involving chromosome 5. Microarray comparative genomic hybridization is a powerful tool for revealing genomic copy number variations for its high-resolution, high-throughput and high accuracy.</p>

A de novo partial 5p deletion and cryptic 18p duplication detected by SNP-Array in a boy featuring Cri du Chat syndrome / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To determine the karyotype of a boy suspected to have Cri du Chat syndrome with severe clinical manifestations, and to assess the recurrence risk for his family.</p><p><b>METHODS</b>High-resolution GTG banding was performed to analyze the patient and his parents. Fluorescence in situ hybridization (FISH) with Cri du Chat syndrome region probe as well as subregional probes mapped to 5pter, 5qter, 18pter, 18qter, and whole chromosome painting probe 18 was performed to analyze the patient and his parents. In addition, single nucleotide polymorphism-based arrays (SNP-Array) analysis with Affymetrix GeneChip Genome-wide Human SNP Nsp/Sty 6.0 were also performed to analyze the patient.</p><p><b>RESULTS</b>Karyotype analysis indicated that the patient has carried a terminal deletion in 5p. FISH with Cri du Chat syndrome region probe confirmed that D5S23 and D5S721 loci are deleted. SNP-Array has detected a 15 Mb deletion at 5p and a 2 Mb duplication at 18p. FISH with 5p subtelomeric probes and 18p subtelomeric probe further confirmed that the derivative chromosome 5 has derived from a translocation between 5p and 18p, which has given rise to a 46,XY,der(5)t(5;18)(p15.1;p11.31)dn karyotype.</p><p><b>CONCLUSION</b>A de novo 5p partial deletion in conjunction with a cryptic 18p duplication has been detected in a boy featuring Cri-du-Chat syndrome. His parents, both with negative findings, have a low recurrence risk. For its ability to detect chromosomal imbalance, SNP-Array has a great value for counseling of similar patients and assessment of recurrence risks.</p>

Cri du chat syndrome: A series of five cases.

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.

Síndrome de maullido de gato o “Cri Du Chat”: presentación de un caso / Cri-du-chat syndrome: a case report

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.

Síndrome de cri du chat, una rara cromosopatía / Cri du chat syndrome, a rare chromosomal disorder

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...

A Case of Cri du Chat Syndrome with Developmental Delay Misdiagnosed as Fetal Alcohol Syndrome

Cri du Chat syndrome (CdCS) is a chromosomal disease resulting from a deletion on the short arm of chromosome 5. Characteristic features include high pitched cat-like cry, distinguishing facial features, and mental retardation. Some cases have been reported in the Korean literature, but no case reports about the concrete aspects of developmental delay in CdCS patients have been published. Therefore, we report a CdCS patient with developmental delay who was misdiagnosed as fetal alcohol syndrome. The result of the Korean-Child Development Review and Sequenced Language Scale for Infants showed severe developmental retardation, especially in expressive language.