Genetic Counseling

Articles from Vol. 22, No. 2, 2011

A Case of Congenital Warfarin Syndrome Due to Maternal Drug Administration during the Pregnancy
Summary: A case of congenital Warfarin syndrome due to maternal drug administration during the pregnancy: Warfarin, which is used for anticoagulant therapy, rarely produces congenital warfarin syndrome characterized with hypoplastic nose, stippled epiphyses,...
A Neonatal Case of Left Ventricular Noncompaction Associated with Trisomy 18
Summary: A neonatal case of left ventricular noncompaction associated with trisomy 18: Left ventricular non-compaction (LVNC) is a rare congenital cardiomyopathy and exact etiology is still unknown. Trisomy 18 is the second most common autosomal trisomy...
An Infantile Case of Zellweger Syndrome Presented with Kabuki-Like Phenotype
Summary: An infantile case of Zellweger syndrome presented with Kabuki-like phenotype: Zellweger syndrome is a peroxisomal disorder resulting from the mutations in PEX genes generally presenting in the neonatal period with profound hypotonia seizures,...
Aniridia Phenotype and Myopia in a Turkish Boy with a Pax6 Gene Mutation
Summary: Aniridia phenotype and myopia in a Turkish boy with a PAX6 gene mutation: A boy with bilateral aniridia, iris coloboma, glaucoma, myopia and slight developmental delay was found to have a frame shift mutation in the PAX6 gene. The c.474delC...
A Novel Mutation of the Claudin 16 Gene in Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis Mimicking Rickets
Summary: A novel mutation of the claudin 16 gene in familial hypomagnesemia with hypercalciuria and nephrocalcinosis mimicking rickets: Familial Hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is caused by a mutation in the gene CLDN16,...
A RARE CASE OF MONOSOMY 18p: TRANSLOCATION BETWEEN CHROMOSOMES 18 AND 21
Summary: A rare case of monosomy 18p: Translocation between chromosomes 18 and 21: A rare case of monosomy 18p with molecular cytogenetic characterization of 18;21 whole arm translocation is presented. An 8-year-old gril with mental deficiency and growth...
Can Fetal Ultrasound Result in Prenatal Diagnosis of Prader-Willi Syndrome?
Summary: Can fetal ultrasound result in prenatal diagnosis of Prader-Willi syndrome?:Objective: To define fetal ultrasound characteristics triggering an antenatal diagnosis of Prader Willi syndrome (PWS).Methods: Retrospective analysis of sonographic...
DYSMORPHOLOGICAL AND PHARMACOLOGICAL STUDIES IN 4q- SYNDROME
Summary: Dysmorphological and pharmacological studies in 4q- syndrome: The 4q- syndrome includes interstitial and terminal deletions of the long arm of chromosome 4. In this study 22 children with 4q- were evaluated through face-to-face assessments and/or...
Linkage Analysis and a Novel Col4a5 Mutation in a Large Turkish Family with Alport Syndrome
Summary: Linkage analysis and a novel COL4A5 mutation in a large Turkish family with Alport syndrome:Background: Alport syndrome (AS) is a renal disease that is characterized by proteinuria and progressive renal failure, and often accompanied by sensorineural...
New Phenotype with Generalized Platyspondyly, Large Mandible, Hypoplastic Teeth, Strabismus, Hyperopia and Low Cholesterol Levels
Summary: New phenotype with generalized platyspondyly, large mandible, hypoplastic teeth, strabismus, hyperopia and low cholesterol levels: A sporadic, adult male patient with generalized platyspondyly, large mandible, hypoplastic teeth, strabismus,...
Ovulation Induction with Gonadotropins Causes Increased Sister Chromatid Exchanges
Summary: Ovulation induction with gonadotropins causes increased sister chromatid exchanges: Gonadotropins are widely accepted agents for ovulation induction in infertile women. On the other hand, several authors discuss the possible effect of gonadotropins...
PARTIAL TRISOMY 3q IN A CHILD WITH SACROCOCCYGEAL TERATOMA AND CORNELIA DE LANGE SYNDROME PHENOTYPE
Summary: Partial trisomy 3q in a child with sacrococcygeal teratoma and Cornelia de Lange syndrome phenotype: Partial duplication of 3q is a rare chromosomal disorder that leads to multiple congenital abnormalities such as growth retardation, microcephaly...
Ring Chromosome 18 in a Child with Febrile Seizures
Summary: Ring chromosome 18 in a child with febrile seizures: Ring chromosomes are uncommon cytogenetic findings but have meanwhile been reported for nearly all human chromosomes. Among the rare observations of ring chromosomes in man, the diagnosis...
The Role of Genomics in Prevention or Reducing the Impact of Congenital Malformations
Summary: The role of genomics in prevention or reducing the impact of congenital malformations: Congenital malformations (CMs) are permanent changes produced by abnormality of development in a body structure during prenatal life. Population based studies...
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