Patau and Edwards Syndromes in a University Hospital: beyond palliative care / Síndrome de Edwards e Patau em um hospital universitário: além do paliativo

ABSTRACT Objective: To describe the newborn population with Patau (T13) and Edwards Syndrome (T18) with congenital heart diseases that stayed in the Intensive Care Unit (ICU) of a quaternary care hospital complex, regarding surgical and non-surgical medical procedures, palliative care, and outcomes. Methods: Descriptive case series conducted from January/2014 to December/2018 through analysis of records of patients with positive karyotype for T13 or T18 who stayed in the ICU of a quaternary hospital. Descriptive statistics analysis was applied. Results: 33 records of eligible patients were identified: 27 with T18 (82%), and 6 T13 (18%); 64% female and 36% male. Eight were preterm infants with gestational age between 30-36 weeks (24%), and only 4 among the 33 infants had a birth weight >2500 g (12%). Four patients underwent heart surgery and one of them died. Intrahospital mortality was 83% for T13, and 59% for T18. The majority had other malformations and underwent other surgical procedures. Palliative care was offered to 54% of the patients. The median hospitalization time for T18 and T13 was 29 days (range: 2-304) and 25 days (13-58), respectively. Conclusions: Patients with T13 and T18 have high morbidity and mortality, and long hospital and ICU stays. Multicentric studies are needed to allow the analysis of important aspects for creating protocols that, seeking therapeutic proportionality, may bring better quality of life for patients and their families.

RESUMO Objetivo: Descrever a população de recém-nascidos com síndrome de Patau (T13) e Edwards (T18) portadores de cardiopatias congênitas, que permaneceram em Unidades de Terapia Intensiva (UTI) de um complexo hospitalar quaternário, com relação a conduta cirúrgica ou não, cuidados paliativos e seus desfechos. Métodos: Série de casos de pacientes internados entre janeiro de 2014 a dezembro de 2018, com análise dos prontuários de portadores de T13 ou T18 que permaneceram internados em UTI que recebem neonatos nesse hospital quaternário. Utilizou-se análise estatística descritiva. Resultados: Foram identificados 33 prontuários para análise — 27 T18 (81,8%) e seis T13 (18,2%); 64% do sexo feminino e 36% do sexo masculino. Oito foram prematuros, nascidos com 30 a 36 semanas (24,2%), e apenas quatro nasceram com mais de 2500 g (12,1%). Quatro pacientes foram submetidos a cirurgia cardíaca e um deles foi a óbito. A mortalidade intra-hospitalar foi de 83% para T13 e 59% para T18. A maioria apresentava outras malformações e foi submetida a outras cirurgias. Cuidados paliativos foram oferecidos a 54% dos pacientes. A mediana do tempo de hospitalização para T18 e T13 foi respectivamente de 29 dias (variação: 2-304) e 25 dias (13-58). Conclusões: Pacientes com T13 e T18 cursam com alta morbimortalidade e longa permanência hospitalar em UTI. São necessários estudos multicêntricos para melhor análise de aspectos importantes para a criação de protocolos que, buscando proporcionalidade terapêutica, tragam melhor qualidade de vida para os pacientes e suas famílias.

Holoprosencephaly in Patau Syndrome / Holoprosencefalia na Síndrome de Patau

ABSTRACT Objective: To evaluate radiological (gestational and perinatal) and neonatal signs of patients with Patau syndrome and semilobar holoprosencephaly, as well as to report the association of both pathologies. Case description: This case report is about a female infant, born at term with trisomy of the chromosome 13 and semilobar holoprosencephaly, with thalamic fusion and a single cerebral ventricle, in addition to several other changes that worsened the patient's prognosis. Comments: Chromosome 13 trisomy is a genetic alteration that leads to the symptoms that determines Patau syndrome. In this syndrome, cardiovascular, urogenital, central nervous system, facial structure and intellectual impairment are common, in addition to problems in limb formation, such as decreased humerus and femur length, polydactyly, hypotelorism and low ear implantation. It is estimated, however, that holoprosencephaly is present in only 24 to 45% of the patients with trisomy 13.

RESUMO Objetivo: Avaliar sinais radiológicos (gestacionais e perinatais) e neonatais de paciente com síndrome de Patau e holoprosencefalia semilobar, assim como relatar a associação de ambas as patologias. Descrição do caso: Trata-se de um relato de recém-nascido do sexo feminino a termo, que apresentou trissomia do cromossomo 13 e holoprosencefalia semilobar, com fusão talâmica e ventrículo cerebral único, além de várias outras alterações que pioraram o prognóstico da paciente. Comentários: A trissomia do cromossomo 13 é um defeito genético que caracteriza um conjunto de sintomas que compõem a Síndrome de Patau. Nesta síndrome, é comum o acometimento cardiovascular, urogenital, do sistema nervoso central, da estrutura facial e da capacidade intelectual, além de falhas na formação dos membros, como diminuição no comprimento do úmero, fêmur, polidactilia, hipotelorismo e baixa implantação das orelhas. Estima-se, no entanto, que a holoprosencefalia apresente-se nesse grupo de malformações congênitas apenas em 24 a 45% dos casos.

Trisomía 9, trisomía 13 y trisomía 18: resultados del análisis citogenético prenatal, Hospital Clínico Universidad de Chile, años 2000-2017 / Trisomy 9, trisomy 13 and trisomy 18: results of the prenatal cytogenical analysis, Hospital Clínico Universidad de Chile, years 2000-2017

INTRODUCCIÓN: En Chile, la norma técnica de la Ley N° 21.030 de 2017 considera tres aneuploidías como letales; las trisomías 9, 13 y 18, cuyo diagnóstico se confirma con un cariograma. No existe a la fecha registro nacional de frecuencia prenatal de estas patologías. OBJETIVO: Determinar la frecuencia de trisomías 9, 13 y 18 en los estudios citogenéticos prenatales en muestras de células obtenidas con amniocentesis y cordocentesis, procesados en el Laboratorio de Citogenética del Hospital Clínico Universidad de Chile. MATERIALES Y MÉTODOS: Estudio descriptivo y retrospectivo de los resultados de cariograma de líquido amniótico (LA) y sangre fetal (SF), procesados desde enero de 2000 a diciembre de 2017. RESULTADOS: Se incluyeron 2.305 muestras (402 de SF y 1.903 de LA), de ellas 442 (19%) fueron trisomías letales (TL), dentro de ellas fueron TL libres 416 (95%), TL estructurales 15 (2,7%) y mosaicos 11 (2,3%). La trisomía 18 fue en ambos tipos de muestra la más frecuente (73,5%), seguida de trisomía 13 (24,2%) y trisomía 9 (2,3%). Se desglosan resultados conforme al tipo de TL, muestra, motivo de derivación, edad materna y edad gestacional. CONCLUSIONES: El cariograma confirma el diagnóstico de aneuploidías y aporta datos relevantes para el consejo genético. La cromosomopatía letal más frecuente fue la trisomía 18. Se observó que uno de cada cinco cariogramas referidos por anomalías congénitas y/o marcadores de aneuploidía revelaban una TL.

INTRODUCTION: In Chile, the technical standard of Law No. 21,030 of 2017 considers three aneuploidies as lethal; trisomies 9, 13 and 18, whose diagnosis is confirmed with a Karyotype. To date there is not a national registry of prenatal frequency of these pathologies. OBJECTIVE: To determine the frequency of trisomies 9, 13 and 18 in prenatal cytogenetic studies in samples of cells obtained with amniocentesis and cordocentesis, processed in the Cytogenetics Laboratory of the Universidad de Chile Clinical Hospital. MATERIALS AND METHODS: Descriptive and retrospective study of the results of karyotypes of amniotic fluid (LA) and fetal blood (SF) processed from January 2000 to December 2017. Results: 2,305 samples (402 of SF and 1,903 of LA) were included, of which 438 (19%) were lethal trisomies (TL), corresponding to free TL 416 (95%), structural TL 12 (2,7%) and mosaics 10 (2.3%). Trisomy 18 was the most frequent in both types of sample (73,5 %), followed by trisomy 13 (24,2%) and trisomy 9 (2.3%). RESULTS are shown according to the type of TL, sample, reason for referral, maternal age and gestational age. CONCLUSIONS: The karyotype confirms the diagnosis of aneuploidies and provides relevant data for genetic counseling. The most frequent lethal chromosomopathy was trisomy 18. It was observed that one in five karyotypes referred for congenital anomalies and / or aneuploidy markers revealed a TL.

Placenta mórbidamente adherente asociada a malformaciones congénitas: reporte de caso / Morbidly adherent placenta associated with congenital malformations: a case report

INTRODUCCIÓN: Las alteraciones en la placentación son causa importante de morbilidad materna y neonatal y, en ocasiones, de mortalidad. La literatura científica menciona la posible asociación entre acretismo placentario y alteraciones en los parámetros bioquímicos para aneuploidía, sin descripciones de casos en que coincidan estos dos hallazgos. OBJETIVO: Este es un reporte de caso de una gestante con placenta percreta y producto con trisomía 13 REPORTE DE CASO: Gestante de 34 años, gesta 4 cesáreas 2, abortos 1, vivos 2, con embarazo de 20.4 semanas, sin antecedentes de importancia, con hallazgos en ecografía de iii nivel de alteraciones morfológicas en el sistema nervioso central, onfalocele, malformación cardiaca y deformidades en miembros. Con doppler de placenta que evidencia placenta mórbidamente adherida variedad percreta; hallazgos ecográficos confirmados con el estudio anatomopatológico. CONCLUSIONES: La trisomía 13 es una condición genética que debido a las múltiples malformaciones asociadas se considera incompatible con la vida, la placenta mórbidamente adherida se ha asociado con morbimortalidad neonatal y fetal, la no evidencia en la literatura de estas dos condiciones asociadas puede ser debido a la interrupción temprana de las gestaciones en las que se confirma el primer diagnóstico.

BACKGROUND: Alterations in placentation are an important cause of maternal and neonatal morbidity and, sometimes, deaths. The scientific literature mentions the possible association between placental accreta and alterations in the biochemical parameters for aneuploidy, without descriptions of cases in which these two findings coincide. OBJECTIVE: This is a case report of a pregnant woman with placenta percreta and trisomy 13, in which an ultrasound and pathological analysis were made. The use of keywords, in different databases, did not yield information that directly comply with these associations. CASE REPORT: A 34-year-old pregnant woman, G4C2A1V2 with a 20.4-week pregnancy, without significant medical records, with findings at III level ultrasound of morphological alterations of the central nervous system, omphalocele, cardiac malformation and limb deformities. Also, with placental Doppler that evidences morbidly adhered placenta variety percreta; ultrasound findings confirmed with the pathological study. CONCLUSION: The morbidly adhered placenta has been associated with neonatal and fetal mortality, in which some of the identified causes of fetal death are congenital anomalies. This way this case report allows for the first time to describe the association of placental accreta with aneuploidy, type trisomy 13, demonstrated by the morphological alterations of the pathological and karyotype study.

A case study of Mosaic Trisomy 13 in a 2-year-old Filipino child

@#Mosaic trisomy 13 is estimated to occur in 5% of all trisomy 13 cases. Presentation of trisomy 13 mosaicism is highly variable, with cases that may present with a normal phenotype and intellectual function, to cases with grossly abnormal features and profound developmental delays. We present a 2-year-old female with trisomy 13 mosaicism, who presented with small for gestational age (SGA), polydactyly, ventricular septal defect (VSD), and poor oral feeding.

Trisomy 13 mosaicism syndrome with atypical plurimalformative phenotype

Introduction: Orofacial clefts are important congenital malformations of the lip, palate, or both caused by complex genetic and environmental factors. Aims and Objectives: The present study aims to highlight the phenotypic heterogeneity of trisomy 13 mosaicism. Material and Methods: We present one clinical case of a 30-year-old, Caucasian woman who is pregnant for the first time. Techniques of work study: anamnesis, clinical examination, serological tests for Toxoplasmosis, Rubeola, CMV and Herpes, ultrasound examination at 20 weeks gestation with General Electric Echographe Voluson E10 BT18, amniocentesis, fetal chromosome analysis and genetic counseling. Results: Ultrasound examination showed a viable singleton fetus with intra-uterine growth restriction, oligohydramnios, bilateral cleft lip and cleft palate, hypoplastic nasal bone and bilateral polycystic kidneys. Amniocentesis was done, and the fetal chromosomal analysis revealed a fetus with 46, XY/47, XY,+13 mosaic karyotype. After a complex genetic counselling the parents opted, to terminate the pregnancy. The autopsy confirm the prenatal ultrasound diagnosis. Conclusion: Routine ultrasound examination during pregnancy and specific genetic testing are essential for the early prenatal detection of major structural fetal anomalies associated with rare genetic chromosome syndromes.

Mosaicismo de trisomía 13 / Trisomy 13 mosaicism

Resumen Introducción: La trisomía 13 es una alteración cromosómica con una incidencia de 1 en 10,000 a 20,000 nacimientos. Puede ocurrir de forma completa, parcial o en mosaicismo. Este último caso ocurre cuando, en un individuo, un porcentaje de células son trisómicas para el cromosoma 13 mientras que el resto son euploides, y corresponde solamente al 5% de todos los casos. Los pacientes que padecen trisomía 13 presentan una expresividad variable, que va desde malformaciones graves con muerte temprana (fenotipo similar a la forma completa y más frecuente) hasta un desarrollo normal y pocos hallazgos dismórficos. Casos clínicos: Se presentan los hallazgos clínicos y citogenéticos de dos casos nuevos de mosaicismo de trisomía 13. Conclusiones: Se resalta la importancia del diagnóstico prenatal, los hallazgos clínicos y la evaluación médica interdisciplinaria, así como un asesoramiento genético oportuno.

Abstract Background: Trisomy 13 is a chromosomal alteration with an incidence of 1 in 10,000 to 20,000 births. It can occur completely, partially or in mosaicism; the latter occurs when a percentage of cells are trisomic for chromosome 13, while the rest are euploid in an individual and corresponds to only 5% of all cases. Patients with trisomy 13 present a wide variable expressivity, ranging from severe malformations with early death (phenotype similar to the complete form and more frequent), to normal development and few dysmorphic findings. Case reports: The clinical and cytogenetic findings of two new cases of trisomy 13 mosaicism are described. Conclusions: The importance of prenatal diagnosis, clinical findings, and interdisciplinary medical evaluation is highlighted, as well as an appropriate genetic counseling.

Mirror syndrome assocciated with patau syndrome: A case report / Síndrome de espelho associada a uma síndrome de Patau: um relato de caso

Abstract Mirror syndrome is an unusual pathological condition in which maternal edema in pregnancy is seen in association with severe fetal and/or placental hydrops. The disease can be life-threatening for both the mother and the fetus. The pathogenesis is poorly understood, and may be confused with preeclampsia, even though distinguishing features can be identified. We report a rare case of mirror syndrome with maternal pulmonary edema associated with fetal hydrops due to Patau syndrome.

Resumo A síndrome de espelho é uma patologia invulgar na qual o edemamaterno é observado em associação com hidropsia fetal e/ou placentária graves. Esta doença pode ser fatal paraamãe e para o feto. A sua patogênese émal compreendida, e pode ser confundida compré-eclâmpsia,mesmo comcaracterísticas distintivas identificadas. Relatamos um caso raro de síndrome de espelho com edema pulmonar materno associado a hidropsia fetal devido a síndrome de Patau.

Trisomía parcial del cromosoma 13: presentación de un caso / Partial trisomy of chromosome 13: presentation of a case

Fundamento: La trisomía del cromosoma 13 es una enfermedad genética con una incidencia reportada de 1x 20 000 nacidos vivos, que resulta de la presencia de un cromosoma 13 supernumerario; es la trisomía reportada menos frecuente en la especie humana y con diferentes expresiones clínicas. Objetivo: Reportar el caso debido a su poca frecuencia y a su forma de presentación clínica. Reporte del caso: Recién nacido a término, que nace en buenas condiciones, bajo peso al nacer, con diagnóstico prenatal de trisomía parcial 13. Evolucionó tempranamente con distres respiratorio siendo necesario el uso de ventilación mecánica y convulsiones. Se retiró de la ventilación con esfuerzo respiratorio efectivo. Otra anomalía presentada fue una comunicación interauricular e insuficiencia cardiaca. Conclusiones: El pronóstico de vida en estos pacientes se relaciona claramente con la gravedad de las malformaciones y a su vez con el grado de alteración cromosómica, es esta forma de presentación la menos complicada y la de mayor sobrevida, por lo que se recomienda una atención médica de alta especialización para lograr la estabilidad de este paciente el mayor tiempo posible.

Background: Trisomy of chromosome 13 is a genetic disease with a reported incidence of 1x 20 000 live births, resulting from the presence of a supernumerary chromosome 13; is the trisomy reported less frequent in the human species and with different clinical expressions. Objective: To report the case due to its infrequency and to its clinical presentation. Case report: Newborn to term, born in good condition, underweight at birth, with prenatal diagnosis of partial trisomy 13. Early evolution with respiratory distress with the need of using the mechanical ventilation and convulsions. Ventilation was retired with effective respiratory effort. Another anomaly presented was atrial septal defect and heart failure. Conclusions: The prognosis of life in these patients is clearly related to the severity of the malformations and, in turn, to the degree of chromosomal alteration, this form of presentation is the least complicated and the one with the highest survival rate, Of high specialization to achieve the stability of this patient as long as possible.

Evaluating the results of the Momguard noninvasive prenatal test

PURPOSE: To evaluate the performance of the Momguard noninvasive prenatal test by tracing the 'screen positive' results based on preliminary samples from Korean cohorts. MATERIALS AND METHODS: This preliminary study is based on data collected by the LabGenomics Clinical Laboratory (Seongnam, Korea) with informed consent. Only pregnant women who underwent both the Momguard test and karyotyping were included in this study. Momguard test results were compared with those of the karyotyping analysis. RESULTS: Among the 38 cases with 'screen positive' results by Momguard, 30 cases also had karyotyping results available. In three trisomy (T) 18 and three T13 cases, the Momguard results were concordant with the karyotyping results. For the T21 cases, except for one case belonging to the mid-risk zone, Momguard results from 23 out of 24 cases matched the karyotyping results. CONCLUSION: Momguard is a highly reliable screening tool for detecting T13, T18, and T21 cases in independent Korean cohort samples.

Antenatal diagnosis of Patau syndrome with previous anomalous baby.

Patau syndrome is the least common and most severe of the viable autosomal trisomies with median survival of fewer than 3 days was first identified as a cytogenetic syndrome in 1960. Patau syndrome is caused by an extra copy of chromosome 13. In this case report, we present antenatal imaging findings & gross foetal specimen correlation of foetus with Patau syndrome confirmed by karyotyping in third gravida who had significant previous obstetric history of gastrochisis in monochorionic and monoamniotic twins who died at 14 weeks of gestation.

Síndrome de Patau o trisomía 13: reporte de caso / Patau syndrome or trisomy 13: a case report

RESUMEN Se presenta caso de síndrome de Patau diagnosticado ecográficamente a las 25 semanas de gestación y confirmado por cariotipo. Su desenlace fue fatal apenas nacido.

ABSTRACT We presents a Patau syndrome diagnosed by ultrasound at 25 weeks gestation and confirmed by karyotype. Its outcome was fatal shortly after birth.

An Interesting Case of Meckel-Gruber Syndrome.

Meckel-Gruber syndrome, also known as ‘Dysencephalia splanchnocystica’, is a rare lethal autosomal recessive disorder consisting of central nervous system malformation- mainly posterior encephalocele (80%), multicystic kidneys (95%) and polydactyly (75%). Besides the classic triad of neural tube defects, polydactyly and cystic dysplasia of the kidneys, other abnormalities can occur in association with the syndrome, which may be detected sonographically include micrognathia, cardiac abnormalities, syndactyly, clinodactyly and clubbed foot. We report a case of a 26-year-old woman with previous LSCS referred from a private practitioner with abnormal ultrasonographic findings. She was diagnosed to have Meckel-Gruber syndrome. Woman and her husband were counseled regarding this lethal condition incompatible with life and after proper consent and information, pregnancy was terminated.

Presentación clínica de la trisomía 13 mosaico con mayor pronóstico de vida: reporte de un caso / Clinical presentation of mosaic trisomy 13 with longer life expectancy: case report

INTRODUCCIÓN: La trisomía del cromosoma 13, antes llamado Síndrome de Patau, es una enfermedad genética que resulta de la presencia de un cromosoma 13 supernumerario. Fue descubierta en 1960 por el Dr. Klaus Patau y actualmente es la trisomía reportada menos frecuente en la especie humana. Se suele asociar con un problema meiótico materno más que paterno y, como el síndrome de Down, el riesgo aumenta con la edad de la mujer. Los afectados mueren poco tiempo después de nacer, la mayoría a los3 meses de edad. Entre el 80-90 por ciento de los fetos con el síndrome no llegan a término. PRESENTACIÓN DEL CASO: Se presenta el caso de un recién nacido (RN) con diagnóstico de trisomía 13, asociado a malformaciones características de la trisomía, destacando la Tetralogia de Fallot y la laringotraqueomalacia. Al nacimiento, evoluciona con múltiples complicaciones secundarias a su patología de base, interfiriendo con la evolución y pronóstico de la enfermedad. El pronóstico de vida se relaciona claramente con la gravedad de las malformaciones cerebrales, renales y cardiacas; que a su vez se relacionan con el grado de alteración cromosómica que presenta el individuo, siendo la menos complicada el mosaicismo, como se describirá más adelante. DISCUSIÓN: Últimamente la visibilidad de los casos de trisomía 13 han aumentado por la mayor práctica en el diagnóstico de este mismo y además de su sobrevida por las nuevas intervenciones que se han descubierto en la medicina.

INTRODUCTION: Trisomy of chromosome 13, also known as Patau Syndrome, is a genetic disorder resulting from a supernumerary chromosome 13. It was discovered in 1960 by Patau and is currently reported less frequent trisomy in humans. It isusually associated with a maternal rather than paternal meiotic disorder and, like Down syndrome, its incidence increases with maternal age. Affected infants die shortly after birth, mostly before 3 months old. It is believed that 80-90 percent of affected fetuses do not reach term gestational age. CASE REPORT: The case of a male newborn with diagnosis of trisomy 13 is presented, with charasteristic features such as pink Tetrallogy of Fallot and laryngotracheomalacia. At birth, the patient manifests multiple complications related to his condition, altering the evolution and prognosis. Survival of the patient exceeded expectations, which is strictly related to the severity of cerebral, cardiac and renal malformations, which in turn is directly related to the degree of chromosomal alterations of the infant, with mosaicism being the less clinically affected. DISCUSSION: Recently the visibility of trisomy 13 cases have increased by more practiced in the diagnoses of the same and in addition to its survival by new interventions that have been discovered in medicine.

A new recurring chromosome 13 abnormality in two older patients with de novo acute myeloid leukemia: An Indian experience.

We report here two cases of trisomy 13 in acute myeloid leukemia M1 subtype. short-term unstimulated bone marrow and peripheral blood lymphocyte culture showed 47, XY, +13 in all metaphase plates and trisomy 13 was confirmed with whole chromosome paint probes. Trisomy 13 in AML-M1 is a rare numerical abnormality. This is the first Indian report of sole trisomy 13 in AML-M1. Here, we present two cases of elder male patients, which may constitute a distinct subtype.

A Case of Patau Syndrome Diagnosed in Early Pregnancy / 대한산부인과학회잡지

Patau syndrome, or Trisomy 13 is one of the most common autosomal aberration associtated with multiple congenital abnormalities. We report a case with trisomy 13 mosacism which was found during an amniocentesis performed due to the age of the mother and abnormal nuchal translucency. The clinical features of fetus included cleft lip and palate, low set ears, polydactily, small ""micro"" penis, and Rocker-bottom feet. After termination of the pregnancy, the fetus was sent for an autopsy. The autopsy report was compatible with the gross findings and pulmonary hypoplasia, microophthalmia, hypoplasia of left ventricle of heart were found.

A Case of Acute Undifferentiated Leukemia with Trisomy 13 / 대한혈액학회지

The diagnosis of acute undifferentiated leukemia is made when the leukemic cells cannot be classified using morphologic and cytochemical analyses, and do not express myeloid or lymphoid antigens. Trisomy 13 is a rare primary chromosomal abnormality in acute leukemia and associated with lineage inconsistency and poor prognosis. We report a rare case of acute undifferentiated leukemia showing negativity in periodic acid-Schiff (PAS) and myeloperoxidase (MPO) without any lineage-specific cell surface marker expression and having trisomy 13. The patient was a 72- year-old male who visited our hospital because of anemia and general weakness. On examination, leukocytosis with proliferated blasts (76%) in peripheral blood was noted. Bone marrow aspirate showed blast proliferation (74%) with morphologically hand-mirror type. The blast expressed CD34 (96%) and HLA-DR (76%) in immunophenotyping. Cytogenetic study of bone marrow cells showed 46,XY,+13,-21[15]/46,XY[5]. Induction chemotherapy was failed and differentiation to monocytic series was noted.

A Case of Cyclopia Associated with Trisomy 13 / 대한산부인과학회잡지

Cyclopia is rare congenital craniofacial anomaly, in which the eyes are fused together and located in a single orbit. It is consistently associated with severe holoprosencephaly, which is the failure of cleavage of the prosencephalon with a deficit in the midline facial development. chromosomal study revealed 47, X( ), +13 (Patau syndrome).