Delecion 22q11.2: características de un grupo de pacientes atendidos en el Hospital Juan P. Garrahan / 22q11.2 deletions: features of a group of patients seen at the Juan P. Garrahan Hospital

El síndrome de Deleción 22q11.2 afecta el aparato cardiovascular, la inmunidad, las funciones endocrinológicas, la cavidad oral, el desarrollo neurocognitivo, con un fenotipo particular debido a una anomalía cromosómica. Objetivo: evaluar las características clínicas y citogenéticas de pacientes atendidos en forma multidisciplinaria, a través de un estudio observacional, descriptivo, transversal e interdisciplinario de una cohorte en seguimiento. Se diagnosticaron 194 pacientes con microdeleción 22q11.2, M 95/ F 99, con un rango etario: 0 a 192m (4días-16 a) y una mediana: 23m, el signo más constante fue la facies característica que se observó en un 100%, el 72,5% presentó malformación cardiovascular, 74,7% mostró defectos en su cavidad oral y el 30,5% hipoacusias. La mayoría de los pacientes evidenciaron compromiso de su neurodesarrollo en forma global, con retraso y trastorno de lenguaje. Se detectaron alteraciones en la inmunidad en el 64,31% con disminución de los linfocitos T, hipocalcemia en 36,8% y defectos urológicos en un 14,7%. Entre los diagnósticos citogenéticos se observó además dos pacientes con traslocaciones cromosómicos de novo que involucraban la microdeleción y un paciente con la deleción en mosaico. Los estudios parentales evidenciaron un 10% de casos heredados. La población estudiada mostró una clínica y frecuencia de anomalías similar a la referida en la bibliografía a excepción de los trastornos auditivos y urológicos que se vieron con menor frecuencia mientras que la prevalencia de alteraciones neurocognitivas fue mayor. La complejidad y variabilidad del síndrome requiere un manejo multidisciplinario.

22q11.2 deletion syndrome may affect the cardiovascular and immune systems, endocrine functions, the oral cavity, and neurocognitive development with a peculiar phenotype due to the chromosomal anomaly. Objective: To evaluate the clinical and cytogenetic features of patients followed-up by a multidisciplinary team in an observational, descriptive, cross-sectional and interdisciplinary cohort study. We diagnosed 194 patients with a 22q11.2 microdeletion, M 95/ F 99, with an age range of 0 to 192 months (4 days-16 years) and a me-dian age of 23 months. Characteristic facies was observed in 100% of the patients, cardiovascular malformation in 72.5%, oral cavity abnormalities in 74.7%, and hearing loss in 30.5%. The majority of the patients showed global impairment of neurological development, such as developmental delay and language disorders. Alterations in the immune system with a low T-lymphocyte count were found in 64.31% of the patients, hypocalcemia in 36.8%, and urinary abnormalities in 14.7%. Among the cytogenetic diagnoses, two patients were found to have de novo chromosome translocations involving the microdeletion and one patient had a mosaic deletion. Stud-ies in parents showed that the disease was inherited in 10% of the cases. Clinical findings and rate of anomalies in the study population were similar to those reported in the litera-ture, except for hearing loss and urinary disorders that were less frequently found, while the prevalence of neurocognitive impairment was higher. The complexity and variability of the syndrome warrants a multidisciplinay approach.

Recent Trends in Prenatal Diagnosis of Fetal Malformations

The frequency of fetal malformations accounts for around 3~5% and evaluation of the health of the fetus and screening for fetal malformations has become an important part of prenatal care. Fetal malformations can be classified into structural and chromosomal abnormalities. Improvements in prenatal diagnosis have allowed identification of malformations in fetuses during the first and second trimesters of pregnancy. In prenatal diagnosis, both screening and diagnostic procedures are included. Screening tests include maternal serum aneuploidy screening tests, which are double marker test, triple test, and quadruple test. Recently, first trimester combined ultrasound-biochemical screening and integrated screening were introduced and provided higher detection rates of chromosomal anomalies (ex. Down syndrome). Diagnostic tests are usually performed when screening results are positive and they include chorionic villus sampling, amniocentesis, and percutaneous fetal blood sampling. With highresolution ultrasound equipment, it is now possible to diagnose most structural abnormalities prenatally. On top of that, recent advances in 3D/4D ultrasound have allowed better understanding of fetal anatomy. However, when ultrasound is equivocal, fetal MRI also can be a useful adjuvant in evaluating fetal structural anomalies. Advances in prenatal diagnostic testing have resulted in tremendous benefits to patients and challenges to healthcare providers and new approaches to education and counseling are needed to assure that all patients receive a complete and balanced review of their prenatal diagnostic testing options. This article provides an overview of various screening and diagnostic methods for prenatal diagnosis of fetal malformations.

Utilidad de la citogenética en la medicina actual Visión histórica y aplicación / The utility of cytogenetics in modern medicine Historical view and application

La citogenética es el estudio de los cromosomas tanto en número como en estructura, los primeros pasos en la citogenética humana se dieron a finales del siglo XIX con la publicación de Flemming en 1882 de las primeras ilustraciones del cromosoma humano a partir de observaciones al microscopio, y concluyó con Tjio y Levan en 1953 cuando se determina el número real de cromosomas humanos por célula diploide. La citogenética convencional es una herramienta de gran importancia que permite realizar el diagnóstico cromosómico de pacientes con indicación clínica de cromosomopatía, lo cual les va a permitir asesorar a las familias respecto de dicha enfermedad, su pronóstico y riesgo de recurrencia. El propósito de esta revisión es documentar a los médicos, pediatras, ginecólogos y en general al personal de la salud, de la importancia de los estudios citogenéticos en aquellos casos en que se enfrenten a un paciente con una cromosomopatía o síndrome dismórfico.

Cytogenetics is the study of chromosomes and their numerical and structural abnormalities. In the late 1800´s Flemming published his first illustrations of human chromosomes based on his observations on a microscope. In 1953 Tijo and Levan determined the number of chromosomes in a human somatic cell. From then on, conventional cytogenetics became an important tool for physicians in the diagnosis of patients with chromosomal anomalies through the use of the karyotype. The karyotype thus becomes a means to diagnose patients and provide them genetic counseling. The purpose of this review is to enlighten family doctors, pediatricians and gynecologists and other health practitioners of the importance of cytogenetics when challenged with patients with an abnormal karyotype or dysmorphic syndrome.

Obstetric Outcomes and Congenital Malformations of Children born after Intracytoplasmic Sperm Injection According to the Origin of Sperm / 대한산부인과학회지

OBJECTIVE: To analyze the obstetric outcomes, the incidence of congenital malformations and chromosomal anomalies of neonates born after intracytoplasmic sperm injection (ICSI) according to the origin of sperm. METHODS: A total of 103 neonates born from ICSI between January 1995 and January 2004 was included. They were divided into three groups: ejaculated (n=73), epididymal (n=17) and testicular (n=13) groups. We compared obstetric outcomes such as pregnancy rates, preterm birth rates, abortion rates, multiple pregnancy rates, gestational age at birth, birth-weight, and the incidence of congenital malformations and chromosomal anomalies. RESULTS: There were no differences among the three groups in terms of pregnancy rates, preterm birth rates, abortion rates, multiple pregnancy rates, gestational age at birth and birth-weight. There were no differences in the incidence of low birth-weight babies and very low birth-weight babies. Major malformations were observed in two cases of ejaculatory group (2.7%) and one of testicular group (7.7%). Major malformations included two gastrointestinal malformations and one cleft lip. Minor malformations were observed in three cases of ejaculatory group (4.1%) and one of testicular group (7.7%). Chromosomal anomalies were observed in 6 cases of 105 pregnancies (5.7%), and all of them were from the ejaculatory group. Two cases had autosomal numerical anomalies and 4 cases autosomal structural anomalies. However, sex chromosomal anomalies were not detected in this study. CONCLUSION: The obstetric outcomes, the incidence of congenital malformations and chromosomal anomalies in ICSI babies were not different according to the origin of sperm. These findings should be further investigated in larger long-term studies.

The efficacy of nuchal translucency with free beta-hCG, PAPP-A as a screening test for detection of chromosomal anomaly in the first trimester of pregnancy / 대한산부인과학회잡지

OBJECTIVES: The aim of this study is to determine the efficacy of nuchal translucency in combination with free beta-hCG, PAPP-A in the first trimester screening for chromosomal anomaly in general population. METHODS: Between April 1998 and December 1999, we evaluated 263 pregnant women undergoing first trimester screening test for fetal chromosomal anomaly using nuchal translucency combined with free beta-hCG, PAPP-A. We confirmed the pregnancy outcomes through chorionic villi sampling, amniocentesis or term delivery. We excluded 15 pregnant women because of their obscure pregnancy outcomes. Statistical analysis was considered significant when P value was lower than 0.05. RESULTS: With a risk cut-off of 1 in 400, 24 pregnancies(9.7%) of 248 cases were screen positive and 224 pregnancies(90.3%) were screen negative. 2 cases of Down syndrome and 1 case of Turner syndrome were detected in screen positive group. No chromosomal anomalies were detected in screen negative group. CONCLUSION: In this study, 8.57% of false positive rate and 12.5% of positive predictive value were obtained in the first trimester screening for chromosomal anomaly using nuchal translucency and serum markers.

1 Case of chromosome 1q deletion with sialoblastoma and hepatoblastoma in neonate / 대한산부인과학회잡지

Sialoblastoma and hepatoblastoma of neonate were very rare cancer. We present a case of concurrent sialoblastoma with hepatoblastoma associated with chromosomal anomaly.

A Case of Ectopic CD7(+) Congenital Monocytic Leukemia

Congenital acute leukemia is a rare disorder with approximately 200 cases reported. It is defined as a childhood leukemia occurring at birth or before 1 month of age at a rate of 1%. Acute leukemias are generally classified according to morphology, cytochemistry and cell surface marker expression. Most leukemias conform to an ordered lineage-specific pattern of gene expression, but a small subset of leukemias appears not to follow lineage restriction. Several reports revealed a subgroup of acute myelogenous leukemia(AML) that expresses CD7, a cell surface marker expressed early during T lineage differentiation, especially in less differentiated AML subtypes. We report a rare case of CD7(+) congenital monocytic leukemia(M5a) with detailed immunophenotypic and cytochemical characterization in an 8 week-old female. She had central nervous system (CNS) involvement at diagnosis. Chromosomal analysis revealed a mosaicism with 46,XX,-6,de1(7) (q21),t(19;21)(q13.3;q22)/46,XX, that has not been reported.

A Case of 7q-Syndrome

Interstitial deletion of the long arm of the chromosome 7 is a well-defined syndrome which usually arises de novo. But there were few case reports in Korea. A male premature newborn infant that we have experienced had broad nasal bridge with bulbous nasal tip, large low-set ears, chorioretinal atrophy, hypoplasia of the aortic arch, micropenis, feeding difficuties and severe growth retardation, which are characteristic clinical features of the 7q deletion syndrome and confirmed to be a 7q-(q31qter) syndrome by chromosomal study.

A case of 7q-syndrome

No abstract available.