Genetic Counseling

Articles from Vol. 22, No. 3, 2011

A 24.2-MB DELETION OF 4q12[arrow Right]q21.21 CHARACTERIZED BY ARRAY CGH IN A 13 ½-YEAR-OLD GIRL WITH SHORT STATURE, MENTAL RETARDATION, DEVELOPMENTAL DELAY, HYPEROPIA, EXOTROPIA, ENAMEL DEFECTS, DELAYED TOOTH ERUPTION AND DELAYED PUBERTY
Summary: A 24.2-Mb deletion of 4q12[arrow right]q21.21 characterized by array CGH in a 13 ½-year-old girl with short stature, mental retardation, developmental delay, hyperopia, exotropia, enamel defects, delayed tooth eruption and delayed puberty: We...
A Boy with Weyers-Like Ulnar Ray/oligodactyly Reduction Limb Defects and Split Hand Malformation: Case Report
Summary: A boy with Weyers-like ulnar ray/oligodactyly reduction limb defects and split hand malformation: case report: Weyers ulnar ray/oligodactyly syndrome is characterized by variable ulnar, radial, or fibular ray limb reductions, single central...
A Case with Multiple Sclerosis and Familial Mediterranean Fever
A 35 year-old male with history of FMF admitted to our clinic for headache, dizziness, visual disturbance, left-sided body numbness and imbalance for 20 days. He initially developed light dizziness, left-sided face numbness and left-sided tongue burning...
Central Nervous System Involvement in a Case of Familial Hemophagocytic Lymphohistiocytosis with Perforin Mutation
Summary: Central nervous system involvement in a case of familial hemophagocylic lymphohistiocytosis with perforin mutation: Familial hemophagocytic lymphohistiocytosis (FHL) is a rare autosomal recessive lethal condition characterized by fever, cytopenia,...
Clinical and Molecular Studies in Two Families with Fraser Syndrome: A New Faas1 Gene Mutation, Prenatal Ultrasound Findings and Implications for Genetic Counselling
Summary: Clinical and molecular studies in two families with Fraser syndrome: a new FRAS1 gene mutation, prenatal ultrasound findings and implications for genetic counselling: Fraser syndrome is a rare autosomal recessive genetic disorder characterized...
DEL (18P) SYNDROME WITH INCREASED NUCHAL TRANSLUCENCY REVEALED IN PRENATAL DIAGNOSIS
Fetal chromosomal abnormality and increased nuchal translucency (INT) association is well established (6). There are several reports about the association between foetal chromosomal abnormalities including triploidy, trisomies 13, 18, 22, tetrasomy 12p...
INTERSTITIAL DELETION OF 13q22-Q32: A CASE WITH CHOANAL ATRESIA AND MEGA-CISTERNA MAGNA AND REVIEW OF THE LITERATURE
An interstitial deletion of the long arm of chromosome 13 is a very rare chromosomal abnormality. Patients with this deletion have various phenotypes depending on the deleted region of chromosome 13. Here we report a 3 months old boy (Fig. 1) whose karyotype...
Lethal Evolution of a Newborn with Consistent Features of Hydrolethalus Syndrome - Romanian Patient
Summary: Lethal evolution of a newborn with consistent features of hydrolethalus syndrome - Romanian patient: Hydrolethalus syndrome is a severe lethal disorder most commonly found in Finland. We present a lethal case of complex congenital malformation...
Mosaic Ring Chromosome 4 in a Child with Mild Dysmorphisms, Congenital Heart Defects and Developmental Delay
A 2-year-old girl was the second child of non-consanguineous parents. The mother was 36 years old and the father 56 years old. She was referred for short stature and mild lymphedema of hands and feet with a clinical implication of Turner syndrome. The...
MOSAIC SUPERNUMERARY R(1)(p13.2q23.3) IN A 10-YEAR-OLD GIRL WITH EPILEPSY, FACIAL ASYMMETRY, PSYCHOMOTOR RETARDATION, KYPHOSCOLIOSIS, DERMATOFIBROSARCOMA AND MULTIPLE EXOSTOSES
Summary: Mosaic supernumerary r(1)(p13.2q23.3) in a 10-year-old girl with epilepsy, facial asymmetry, psychomotor retardation, kyphoscoliosis, dermatofibrosarcoma and multiple exostoses: We report molecular cytogenetic characterization of mosaic supernumerary...
PARTIAL TRISOMY 10p12.33 AND PARTIAL MONOSOMY 13q32.1: CASE REPORT AND A LITERATURE REVIEW
Summary: Partial trisomy 10p12.33 and partial monosomy 13q32.1: case report and a literature review: We report on a preterm neonate with a deletion of the distal long arm of chromosome 13q32.1 and partial trisomy of the short arm of chromosome 10p12.33....
PARTIAL TRISOMY 14g DUE TO MATERNAL T(4;14)(p16;q32) IN A DYSMORPHIC NEWBORN
Summary: Partial trisomy 14q due to maternal t(4;14)(p16;q32) in a dysmorphic newborn: Partial Trisomy 14q is a rare chromosomal disorder that mostly results from a parental translocation. We report here a newborn boy with partial trisomy 14q and dysmorphic...
Pentalogy of Cantrell and Supernumerary Naris
The pentalogy of Cantrell was first described in 1 958 ( 1 ). It is characterized by a defect of the anterior diaphragm, supraumbilical omphalocele, pericardium, lower sternum, and congenital intracardiac abnormalities (2). Three classes of the pentalogy...
SELF-INJURIOUS BEHAVIOR ASSOCIATED WITH TRISOMY 9p (9P13.1[arrow Right]p24.3)
The 32-year-old female patient was the fourth child of non-consanguineous and healthy parents. When she was born, her mother was 24 years old and her father 26 years old. There was no family history of congenital malformations. She was delivered at 39...
Unusual Acrofacial Dysostosis with Severe Limb Defects: A New Syndrome
Summary: Unusual acrofacial dysostosis with severe limb defects: a new syndrome: The acrofacial dysostoses are a heterogeneous group of disorders characterised by defects in craniofacial and limb development. The hallmarks include downward slanting palpebral...
Search by... Author
Show... All Results Primary Sources Peer-reviewed

Oops!

An unknown error has occurred. Please click the button below to reload the page. If the problem persists, please try again in a little while.