RESUMEN
OBJECTIVE@#To assess the value of combined cytogenetic and molecular techniques for the prenatal diagnosis of a pregnant woman with intellectual disability (ID).@*METHODS@#The fetus and its parents were subjected to G-banding karyotyping analysis, single nucleotide polymorphism array (SNP-array) and fluorescence in situ hybridization (FISH) analysis.@*RESULTS@#G-banding karyotype analysis revealed that the woman has carried a chromosomal microdeletion 46,XX,del(11)(q24), and the fetus was a carrier of 46,XN,del(11)(q24)mat. Subsequent SNP-array and FISH analysis of the pregnant woman indicated that the microdeletion has mapped to 11q24.1-q25. Both the pregnant woman and her fetus were diagnosed with Jacobsen syndrome.@*CONCLUSION@#Combined use of cytogenetic and molecular genetic techniques can facilitate diagnosis of patients with intellectual disability.
Asunto(s)
Femenino , Humanos , Embarazo , Deleción Cromosómica , Feto , Hibridación Fluorescente in Situ , Discapacidad Intelectual , Síndrome de Deleción Distal 11q de Jacobsen , Diagnóstico , Cariotipificación , Polimorfismo de Nucleótido Simple , Diagnóstico PrenatalRESUMEN
Jacobsen syndrome (JS) is a contiguous gene syndrome resulting from a deletion of chromosome 11q, with various clinical manifestations. A post-term small for gestational age infant was born by normal vaginal delivery without trauma or vacuum extraction. On day 5, right parietotemporal scalp swelling developed, with petechiae on the right cheek and thrombocytopenia (platelets: 63,000/µL). A prominent forehead, wide-set eyes, short and upturned nose were noted. Karyotyping and microarray analysis demonstrated del(11)(q24q25), consistent with Jacobsen syndrome. Brain magnetic resonance imaging (MRI) revealed a huge cephalhematoma. The patient is scheduled to receive periodic evaluations for thrombocytopenia and heart, kidney, abdominal malformations, ophthalmologic and auditory problems. There are lots of newborns with cephalhematoma or petechiae after birth. Not all newborns with these symptoms need evaluations, but if they have these symptoms with suspect features or appearances, we need to go through further evaluations.
Asunto(s)
Humanos , Lactante , Recién Nacido , Encéfalo , Mejilla , Frente , Edad Gestacional , Corazón , Síndrome de Deleción Distal 11q de Jacobsen , Cariotipificación , Riñón , Imagen por Resonancia Magnética , Análisis por Micromatrices , Nariz , Parto , Púrpura , Cuero Cabelludo , Trombocitopenia , VacioRESUMEN
<p><b>OBJECTIVE</b>To detect chromosomal imbalance in a fetus with complex congenital heart disease, and to correlate the genotype with the phenotype.</p><p><b>METHODS</b>Routine G-banding was carried out to analyze the karyotypes of the fetus and its parents, and single nucleotide polymorphisms array (SNP-array) was used for delineating fine genomic aberrations. The detected aberrations were confirmed with multiplex ligation-dependent probe amplification (MLPA).</p><p><b>RESULTS</b>The fetus and its parents all showed a normal karyotype, while array-SNP has detected a 13.87 Mb duplication at 4p16.3-p15.33 and a 15.65 Mb deletion at 11q23.3-q25 in the fetus. The results were confirmed by the MLPA assay.</p><p><b>CONCLUSION</b>The partial trisomy 4p (Wolf-Hirschhorn syndrome) and partial monosomy 11q (Jacobsen syndrome) probably underlie the complex heart defects detected in the fetus. Analysis of the karyotypes of its parents offered no help for the determination of the aberrant type and recurrent risk. Compared with routine karyotype analysis, aberrant regions can be identified with array-SNP with greater resolution and accuracy. This has provided useful information for prenatal diagnosis and genetic counseling.</p>
Asunto(s)
Adulto , Femenino , Humanos , Masculino , Embarazo , Pueblo Asiatico , Genética , China , Cromosomas Humanos Par 11 , Genética , Cromosomas Humanos Par 4 , Genética , Enfermedades Fetales , Diagnóstico , Genética , Síndrome de Deleción Distal 11q de Jacobsen , Embriología , Genética , Linaje , Polimorfismo de Nucleótido Simple , Diagnóstico Prenatal , Síndrome de Wolf-Hirschhorn , Embriología , GenéticaRESUMEN
Jacobsen syndrome is a rare condition associated with the deletion of the long arm of chromosome 11. Though several authors reported prenatal sonographic findings of the Jacobsen syndrome, there are no common disease-specific features. The majority of affected cases were identified postnatally by chromosomal analysis of the dysmorphic or mentally retarded patients. We present a prenatal case of Jacobsen syndrome with a brief review of literature. A routine scanning in a 32-year-old primigravida at 17.3 weeks' gestation showed abnormal ultrasonographic findings consistent with increased nuchal thickening and subtle cardiac abnormalities (levorotated heart axis of greater than 60 degrees and thickened ventricular wall). The patient underwent amniocentesis, and the karyotype showed deletion of the long arm of chromosome 11, 46,XX, del (11) (q23.1q24). The fetal autopsy performed following medical termination confirmed the prenatal findings. The present case represents that the prenatal sonographic detection of the nuchal thickening and subtle cardiac abnormality should warrant a careful assessment of fetal anatomy and prompt cytogenetic analysis looking for chromosomal aberrations.
Asunto(s)
Adulto , Humanos , Embarazo , Amniocentesis , Brazo , Autopsia , Vértebra Cervical Axis , Aberraciones Cromosómicas , Cromosomas Humanos Par 11 , Análisis Citogenético , Corazón , Síndrome de Deleción Distal 11q de Jacobsen , Cariotipo , Personas con Discapacidades Mentales , Diagnóstico Prenatal , UltrasonografíaRESUMEN
Jacobsen syndrome is a clinical disorder characterized by a deletion of the terminal band 11q23. The features of the syndrome include growth retardation, psychomotor retardation, trigonocephaly, downward slanting palpabral fissures, retrognathia, micrognathia, hammer toes, thrombocytopenia and cardiac abnormalities. The disorder was first observed by Jacobsen in 1973. We herein report a case of Jacobsen syndrome in male premature neonate born with trigonocephaly, facial dysmorphism, cardiac defects and thrombocytopenia. The chromosomal study revealed 46, XY, del(11)(q23). The thrombocytopenia improved spotaneously by 3 months of age. The infant underwent a palliative operation for Tetralogy of Fallot at 11 months of age. A brief review of literature is included.
Asunto(s)
Humanos , Lactante , Recién Nacido , Masculino , Craneosinostosis , Síndrome del Dedo del Pie en Martillo , Síndrome de Deleción Distal 11q de Jacobsen , Retrognatismo , Tetralogía de Fallot , TrombocitopeniaRESUMEN
Jacobsen syndrome is a clinical disorder characterized by a deletion of the terminal band 11q23. The features of the syndrome include growth retardation, psychomotor retardation, trigonocephaly, downward slanting palpabral fissures, retrognathia, micrognathia, hammer toes, thrombocytopenia and cardiac abnormalities. The disorder was first observed by Jacobsen in 1973. We herein report a case of Jacobsen syndrome in male premature neonate born with trigonocephaly, facial dysmorphism, cardiac defects and thrombocytopenia. The chromosomal study revealed 46, XY, del(11)(q23). The thrombocytopenia improved spotaneously by 3 months of age. The infant underwent a palliative operation for Tetralogy of Fallot at 11 months of age. A brief review of literature is included.
Asunto(s)
Humanos , Lactante , Recién Nacido , Masculino , Craneosinostosis , Síndrome del Dedo del Pie en Martillo , Síndrome de Deleción Distal 11q de Jacobsen , Retrognatismo , Tetralogía de Fallot , TrombocitopeniaRESUMEN
No abstract available.