Genetic Counseling

Articles from Vol. 24, No. 3, 2013

A 45 X MALE PATIENT WITH 7q DISTAL DELETION AND REARRANGEMENT WITH SRY GENE TRANSLOCATION: A CASE REPORT
Summary: A 45 X male patient with 7q distal deletion and rearrangement with SRY gene translocation: a case report: Here we present a male newborn with multiple congenital anomalies who also has an extremely rare form of testicular disorder of sex development...
A New Patient with Andermann Syndrome: An Underdiagnosed Clinical Genetics Entity?
Summary: A new patient with Andermann syndrome: an underdiagnosed clinical genetics entity .': Andermann syndrome is an autosomal recessive disorder characterized by the agenesis of the corpus callosum and peripheral neuropathy (ACCPN). People affected...
Anophthalmia-Plus Syndrome with Unusual Findings. a Clinical Report and Review of the Literature
Summary: Anophthalmia-Plus Syndrome with unusual findings. A clinical report and review of the literature: We present a male child at 3 years old with Anophthalmia-Plus Syndrome (APS). He has asymmetry of the face and head, left choanal atresia, a sunken...
Bamforth Syndrome: Is Porencephaly a New Finding?
Summary: Bamforth syndrome: is porencephaly a new finding? : Bamforth syndrome is a rare inherited condition whose main features are congenital hypothyroidism due to thyroid dysplasia, cleft palate, and spiky hair, with or without choanal atresia and...
Crigler-Najjar Syndrome Type I in a Turkish Newborn Caused by a Novel Mutation and Gilbert Type Genetic Defect
Summary: Crigler-Najjar syndrome type / in a Turkish newborn caused by a novel mutation and gilbert type genetic defect: Crigler-Najjar syndrome (CNS), caused by deficiency of bilirubin uridine diphosphate glucuronosyltransferase (UGT) IA1, is a rare...
Cytogenetic Study in Recurrent Pregnancy Loss: An Experience from Tertiary Care Centre
Chromosomal aberration is the most common cause for recurrent pregnancy loss (2). The objective of our study was to look for the prevalence of chromosomal abnormalities in cases of recurrent pregnancy loss. Chromosomal analysis was performed on blood...
Femoral Hypoplasia-Unusual Facies Syndrome with Renal Agenesis and Patent Ductus Arteriosus
Femoral hypoplasia-unusual facies syndrome (FHUFS) is a rare condition characterized by a variable degree of unilateral or bilateral femoral hypoplasia associated with facial clefting and other minor malformations (15). It was described for the first...
Multiloculated Hydrocephalus of Intrauterine-Onset: A Case Report of an Unexpected Mthfr A1298c Positive Test Result
Summary: Multiloculated hydrocephalus of intrauterine-onset: a case report of an unexpected MTHFR A1298C positive test result: Loculated hydrocephalus is a condition in which discrete fluid-filled compartments form in association with the ventricular...
NOVO Dup(7)(q21q22.2) and CYTOGENETICS of 7q21q34 DUPLICATIONS
Summary: De novo dup(7)(q2lq22.2) and cytogenetics of 7q21q34 duplications: We report on a constitutional dup(7)(q2lq22.2) and compile 25 similar mid-7q imbalances in order to sort out relevant cytogenetic aspects. The propositus was first karyotyped...
PARTIAL TRISOMY 11q AND PARTIAL MONOSOMY 12p DUE TO THE MATERNAL TRANSLOCATION (11Q;12p)
Partial deletion of the short arm of chromosome 12 is an uncommon cytogenetic abnormality and has not clearly defined characteristic features. Variable features associated with partial monosomy 12p are microcephaly, postnatal growth retardation, developmental...
Prenatal Diagnosis of Goldenhar Syndrome with Unusual Features by 3d Ultrasonography
Summary: Prenatal diagnosis of Goldenhar syndrome with unusual features by 3D ultrasonographs: Oculoaurleulo-vertebral spectrum, or Goldenhar syndrome. Is characterized by varying degrees of prevalently unilateral underdevelopment of craniofacial structures...
Pulmonary Agenesis and Pulmonary Sling Anomaly in an Infant with Down Syndrome
Summary: Pulmonary agenesis and pulmonary sling anomaly in an infant with Down syndrome: Pulmonary agenesis is a rare congenital anomaly presenting with normal karyotype in most of the cases. Rarely pulmonary agenesis is associated with chromosomal abnormalities...
Severe Congenital Neutropenia in Two Siblings Related to Hax1 Mutation without Neurodevelopmental Disorders
Summary: Severe congenital neutropenia in two siblings related to HAXl mutation without neurodevelopmental disorders: Severe congenital neutropenia (SCN) is a rare primary myelopoiesis disorder, characterized by reduced absolute neutrophil counts from...
Subtelomeric Fish Findings in Turkish Patients with Idiopathic Mental Retardation
Summary: Subtelomeric FISH findings in Turkish patients with idiopathic mental retardation: Subtelomeric rearrangements are the major eause of idiopathic mental retardation ( IMR). This study included 67 Turkish children with IMR. Subtelomere fluorescence...
Syndrome of Inappropriate Antidiuretic Hormone Secretion Refractory to Treatment in a Newborn with Alobar Holoprosencephaly
Summary: Syndrome of inappropriate antidiuretic hormone secretion refractory to treatment in a newborn with alobar holoprosencephaly: Alobar holoprosencephaly (AHP) is a serious malformation of the central nervous system characterized by complete failure...
The Clinical Features and Genetic Mutations of Chronic Granulomatous Disease: Results from a Reference Centre at Middle Anatolia
Summary: The clinical features and genetic mutations of chronic granulomatous disease: results from a reference centre at middle Anatolia: Aim: Chronic granulomatous disease (CGD) is a rare innate immune deficiency with neutrophil function disorder....
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