Genetic Counseling

Articles from Vol. 22, No. 4, 2011

8.6MB INTERSTITIAL DELETION OF CHROMOSOME 4q13.3q21.23 IN A BOY WITH COGNITIVE IMPAIRMENT, SHORT STATURE, HEARING LOSS, SKELETAL ABNORMALITIES AND FACIAL DYSMORPHISM
Summary: 8. 6Mb interstitial deletion of chromosome 4ql3.3q21.23 in a boy with cognitive impairment, short stature, hearing loss, skeletal abnormalities and facial dysmorphism: We describe a 1 6-year-old boy with an 8.6Mb interstitial deletion of chromosome...
A 20.5-MB GERMLINE DELETION OF 13q13.1[arrow Right]q14.3 AND SOMATIC MUTATIONS OF THE RB1 GENE IN AN 8-YEAR-OLD GIRL WITH UNILATERAL RETINOBLASTOMA, DEVELOPMENTAL DELAY AND MENTAL RETARDATION
The 8-year-old female patient was the first child of a healthy and unrelated couple. Both the mother and father were 28 years old at her birth. There was no family history of congenital malformations. She was born uneventfully at 38 weeks of gestation...
A Boy with Classical Rubinstein-Taybi Syndrome but No Detectable Mutation in the Crebbp and Ep300 Genes
Summary: A boy with classical Rubinstein-Taybi syndrome but no detectable mutation in the CREBBP and EPiOO genes: Rubinstein-Taybi syndrome (RTS) is a rare autosomal dominant genetic disorder and is characterized by mental retardation, distinctive facial...
Alström Syndrome with Acanthosis Nigricans: A Case Report and Literature Review
Summary: Alström syndrome with acanthosis nigricans: a case report and literature review: Alström syndrome (AS) is a very rare autosomal recessively inherited disorder that can lead to infantile-onset dilated cardiomyopathy, blindness, hearing impairment,...
A SEVERELY MENTAL AND MOTOR RETARDED BOY WITH MONOSOMY 9pter-[Arrow Right]p22, TRISOMY 10q26[arrow Right]qter DUE TO PATERNAL RECIPROCAL TRANSLOCATION 46,xy,t(9;10)(p23;q26)
Summary: A severely mental and motor retarded boy with monosomy 9pter^>p22, trisomy 10q26-*qter due to paternal reciprocal translocation 46,xy,t(9;10)(p23;q26): We report on a twenty-two months old male patient with hypotonia, mental and motor retardation...
Cornelia De Lange Syndrome in a Preterm Infant Presenting with Coarctation of Aorta and Perimembranous Ventricular Septal Defect
A female baby (1560 g) was born 35 weeks of gestation by spontaneous vaginal delivery, as the second child of her parents. There was no history of consanguinity between parents and their first child was healthy. Intrauterine growth restriction, upper...
Femoral Hypoplasia-Unusual Facies Syndrome in a Black African Infant
Summary: Femoral hypoplasia-unusual facies syndrome in a black African infant: The femoral hypoplasia-unusual facies syndrome is a very rare association of femora and facial abnormalities. The most common features include hypoplasia of the femora and...
Klippel-Feil Syndrome and Dandy-Walker Malformation
Summary: Klippel-Feil syndrome and Dandy-Walker malformation: The Klippel-Feil deformity is a complex of osseous and visceral anomalies, which include low hairline, platybasia, fused cervical vertebrae with a short neck, and deafness. Associated central...
Mucocutaneous Disorders in Children with Down Syndrome: Case-Controlled Study
Summary: Mucocutaneous disorders in children with Down syndrome: case controlled study: Objective: Down's syndrome is the most frequent chromosomal anomaly that can affect a multiple organ systems, including skin. In this study, we compared the frequency...
Opinions of Turkish Physicians towards Termination of Pregnancy for Fetal Disorders
Summary: Opinions of Turkish physicians towards termination of pregnancy for fetal disorders: Termination of pregnancy (ToP) raises ethical dilemmas. Although ToP for fetal disorders is commonly approved by health professionals, their opinions and attitudes...
PURE INTERSTITIAL DUPLICATION OF CHROMOSOME 7q (7Q31.2[arrow Right]q33) IN A 4-YEAR-OLD GIRL WITH GROWTH RESTRICTION, SHORT STATURE, SPEECH DELAY AND INTELLECTUAL DISABILITY
Summary: Pure interstitial duplication of chromosome 7q (7q3L2-*q33) in a 4-yearold girl with growth restriction, short stature, speech delay and mental retardation: We report the cytogenetic and molecular characterization of a 22.3-Mb pure interstitial...
Sudden Death Caused by Aortic Dissection in a Patient with Polycystic Kidney Disease
Summary: Sudden death caused by aortic dissection in a patient with polycystic kidney disease: A 43-year-old man presented at the emergency medical unit with chest pain. The results of a clinical examination were normal, apart from sternum pain (without...
Sudden Vision Loss in a Mucopolysaccharidosis I Patient Receiving Enzyme Replacement Therapy
Summary:Sudden vision loss in a mucopolysaccharidosis I patient receiving enzyme replacement therapy: A 25year-old female was referred for short stature and joint deformities. Except for previous corneal transplantation, her medical history was unremarkable....
The First Case of Primary Alpha-Sarcoglycanopathy Identified in Albania, in Two Siblings with Homozygous Alpha-Sarcoglycan Mutation
Summary: The first case of primary alpha-sarcoglycanopathy identified in Albania, in two siblings with homozygous alpha-sarcoglycan mutation: Limb-girdle muscular dystrophy type 2D (LGMD2D) is caused by autosomal recessive mutations in the alpha-sarcoglycan...
Unusual Presentation of Biliary Atresia Splenic Malformation Syndrome with Autosomal Dominant Hypospadias
Summary: Unusual presentation of biliary atresia splenic malformation syndrome with autosomal dominant hypospadias: Biliary atresia is associated with polysplenia in 2-10% of cases and is defined as Biliary Atresia Splenic Malformation syndrome (BASM)....
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