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Genetic Counseling
Articles from Vol. 20, No. 3, 2009
A Feingold Syndrome Case with Previously Undescribed Features and a New Mutation
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Summary: A Feingold syndrome case with previously undescribed features and anew mutation: Feingold syndrome (FS) is a dominantly inherited combination of microcephaly with or without learning disabilities, hand and foot abnormalities, short palpebral...
Analysis of the Sry Gene in a Girl with 45,x/46,xy Genotype
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Summary: Analysis of the SRY gene in a girl with 45,X/46,XY genotype: We present a Turner syndrome patient with a 45,X/46, XY mosaicism. A seven years-old patient was admitted to our laboratory for evaluation of Turner Syndrome. On physical examination,...
Double Aneuploidy (48,Xxy,+21) of Maternal Origin in a Child Born to a 13-Year-Old Mother: Evaluation of the Maternal Folate Metabolism
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Summary: Double aneuploidy (48.XXY.+21) of maternal origin in a child born to a 1 3-year-old mother: evaluation of the maternal folate metabolism: The occurrence of non-mosaic double trisomy is exceptional in newborns. In this paper, a 48,XXY,+21 child,...
Down Syndrome Associated with Severe Combined Immunodeficiency: A Case Report
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Summary: Down syndrome associated with severe combined immunodeficiency: a case report: An 8-month-old-boy was admitted to the hospital because of recurrent bronchopneumonia and gastrointestinal tract infections. On physical examination, he had hypotonia,...
Hyperekplexia in a Neonate: A Novel Finding in Fukuyama Type Congenital Muscular Dystrophy
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Summary: Hyperekplexia in a neonate: a novel finding in Fukuyama type congenital muscular dystrophy: The Fukuyama type congenital muscular dystrophy (FCMD) is a rare autosomal recessive disorder characterized by cranial, cerebellar and ocular malformations...
Joubert Syndrome Associated with Patent Ductus Arteriosus in a Newborn Infant
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Joubert syndrome (JS) is an autosomal recessive disorder with brainstem and cerebellar malformations mainly in the form of agenesis or dysgenesis of cerebellar vermis. The main clinical features of syndrome are generalized hypotonia, an abnormal respiratory...
Mode of Inheritance in Systemic Lupus Erythematosus in Saudi Multiplex Families
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Summary: Mode of inheritance in systemic lupus erythematosus in Saudi multiplex families: Systemic lupus erythematosus (SLE) is a an autoimmune disease causing inflammation and injury of multiple organs like joints, skin, kidneys, eyes, central nervous...
PRENATAL DIAGNOSIS OF PARTIAL TRISOMY 14q (14Q31.1[arrow Right]qter) AND PARTIAL MONOSOMY 5p (5P13.2[arrow Right]pter) ASSOCIATED WITH POLYHYDRAMNIOS, SHORT LIMBS, MICROPENIS AND BRAIN MALFORMATIONS
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The fetus was the 1096-g product of 28-week gestation in a 31-yearold, gravida 2, para 1, mother who had undergone amniocentesis at 18 weeks' gestation because of abnormal maternal serum screen results. At 16 weeks' gestation, the woman's serum screening...
RUBINSTEIN-TAYBI SYNDROME AND CREBBP c.201_202delTA MUTATION: A CASE PRESENTING WITH VARICELLA MENINGOENCEPHALITIS
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Summary: Rubinstein-Taybi syndrome and CREBBP c.201 _202delTA mutation: A case presenting with varicella meningoencephalitis: Rubinstein-Taybi syndrome (RTS) is a rare syndrome with a frequency of approximately 1 in 125,000 affected newborns, which is...
THE CLINICAL EFFECTS OF ISOCHROMOSOME Xq IN KLINEFELTER SYNDROME: REPORT OF A CASE AND REVIEW OF LITERATURE
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Summary: The clinical effects of isochromosome Xq in Klinefelter syndrome: report of a case and review of literature: We describe a male with a variant Klinefelter syndrome (KS), and trisomy Xq resulting from an isochromosome Xq [47,Xi(Xq)Y]. He had...
The Frequency of Consanguineous Marriage in Eastern Turkey
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Summary: The frequency of consanguineous marriage in Eastern Turkey: Objective: The rate of consanguineous marriage (CM) varies depended on different factors such as race, characteristics of population, and religion and moral features in different countries....
Toriello-Carey Syndrome in a Turkish Newborn
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Summary: Toriello-Carey syndrome in a Turkish newborn: Toriello-Carey syndrome is characterized by agenesis of the corpus callosum, telecanthus, short palpebral fissures, small nose with anteverted nares, retrognathia, abnormal ears, laryngeal and cardiac...
