RESUMO
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.
Assuntos
Feminino , Humanos , Gravidez , Deleção Cromossômica , Feto , Hibridização in Situ Fluorescente , Deficiência Intelectual , Síndrome da Deleção Distal 11q de Jacobsen , Diagnóstico , Cariotipagem , Polimorfismo de Nucleotídeo Único , Diagnóstico Pré-NatalRESUMO
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.
Assuntos
Humanos , Lactente , Recém-Nascido , Encéfalo , Bochecha , Testa , Idade Gestacional , Coração , Síndrome da Deleção Distal 11q de Jacobsen , Cariotipagem , Rim , Imageamento por Ressonância Magnética , Análise em Microsséries , Nariz , Parto , Púrpura , Couro Cabeludo , Trombocitopenia , VácuoRESUMO
<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>
Assuntos
Adulto , Feminino , Humanos , Masculino , Gravidez , Povo Asiático , Genética , China , Cromossomos Humanos Par 11 , Genética , Cromossomos Humanos Par 4 , Genética , Doenças Fetais , Diagnóstico , Genética , Síndrome da Deleção Distal 11q de Jacobsen , Embriologia , Genética , Linhagem , Polimorfismo de Nucleotídeo Único , Diagnóstico Pré-Natal , Síndrome de Wolf-Hirschhorn , Embriologia , GenéticaRESUMO
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.
Assuntos
Adulto , Humanos , Gravidez , Amniocentese , Braço , Autopsia , Vértebra Cervical Áxis , Aberrações Cromossômicas , Cromossomos Humanos Par 11 , Análise Citogenética , Coração , Síndrome da Deleção Distal 11q de Jacobsen , Cariótipo , Pessoas com Deficiência Mental , Diagnóstico Pré-Natal , UltrassonografiaRESUMO
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.
Assuntos
Humanos , Lactente , Recém-Nascido , Masculino , Craniossinostoses , Síndrome do Dedo do Pé em Martelo , Síndrome da Deleção Distal 11q de Jacobsen , Retrognatismo , Tetralogia de Fallot , TrombocitopeniaRESUMO
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.
Assuntos
Humanos , Lactente , Recém-Nascido , Masculino , Craniossinostoses , Síndrome do Dedo do Pé em Martelo , Síndrome da Deleção Distal 11q de Jacobsen , Retrognatismo , Tetralogia de Fallot , TrombocitopeniaRESUMO
No abstract available.