Genetic Counseling

Articles from Vol. 25, No. 4, 2014

A Case of L-2 Hydroxyglutaric Aciduria Presenting as Febrile Seizure
I INTRODUCTIONL-2-Hydroxyglutaric aciduria (L2HGA) is a rare autosomal recessive disorder, which belongs to the group of organic acidurias. It is characterized by elevated levels of L-2-hydroxyglutarate in urine, cerebrospinal fluid, and, to a lesser...
A Male Newborn with Simpson-Golabi-Behmel Syndrome, Presenting with Metopic Synostosis, Anal Atresia, and Total Anomalous Pulmonary Venous Return
INTRODUCTIONSimpson-Golabi-Behmel syndrome (SGBS) is a clinical condition described by Simpson, distinct clinical aspects were pointed by Golabi, Rosen and Behmel, characterized with multiple congenital anomalies and caused by GPC3 mutation of the X-linked...
A New De Novo Mutation in a Non-Hot Spot Region at the DMD Gene in a Mexican Family
INTRODUCTIONWhen mutated, the DMD gene causes, in most cases, Duchenne Muscular Dystrophy (DMD) (OMIM 310200). About 60% mutations in DMD are deletions harbored in two hotspots in the proximal and distal regions of the gene (exons 2-20 and 40-79) (3)....
A PATIENT WITH DUPLICATION (7)(P15.3p22.3) AND DELETION (7)(P22.3pter) CHARACTERIZED BY ARRAY-CGH
INTRODUCTIONPartial duplication of the short arm of chromosome 7 is suggested to show a well-defined pattern of abnormalities including developmental, craniofacial, skeletal and cardiovascular anomalies (2,8,12). The phenotypic spectrum of 7p duplications...
A Twin Sibling with Prader-Willi Syndrome Caused by Uniparental Disomy Conceived after in Vitro Fertilization
INTRODUCTIONConcerns about the assisted reproductive technologies (ART) have been raised because of the possible associations between the safety and genetic disorders, particularly imprinting defects (10). Nine imprinting syndromes have been reported...
CASE REPORT: PARTIAL TRISOMY 4q27q35 SYNDROME
1 INTRODUCTIONPartial trisomy 4q is a rare chromosomal disease that is the result of a familial balanced chromosomal translocation whereas it can rarely occur as de novo. Depending on the different breakpoints and size of the included trisomie segment,...
DE NOVO PARTIAL TRISOMY DISTAL 4q: A CASE REPORT
INTRODUCTIONPartial trisomy distal 4q is a rarely seen chromosomal anomaly which occurs due to the duplication of the distal segment of the long arm of the 4th chromosome (8). Typical phenotypic features of the disease comprises of craniofacial, renal,...
Dental Findings in Hamamy Syndrome
INTRODUCTIONHamamy syndrome (HS) is a rare genetic disorder. Clinically, HS is characterized by severe hypertelorism with midface prominence, bone fragility, mental retardation, hearing loss, and myopia. HS was first described in 2007 by Hamamy et al....
Electroconvulsive Therapy during Pregnancy as a Possible Cause of Mobius Syndrome: Additional Clinical Observation
We herein report a newborn case with Möbius syndrome with unilateral facial palsy, unilateral ear anomaly, dysmorphic facial features and sensorineural hearing loss. Möbius syndrome results from the underdevelopment of the VI and VII cranial nerves (14)....
Follow Up of a Family with Asymptomatic Compound Long Qt Syndrome Mutations
INTRODUCTIONLong QT syndromes (LQTS) are abnormalities of ventricular repolarization caused by congenital defects of sodium and potassium channels in children and young adults with structurally normal hearts. Estimated prevalence is 1:2000. It is a cause...
Fryns Anophthalmia-Plus Syndrome: Two Rare Cases
INTRODUCTIONMore than 150 syndromes of microphthalmia associated with different malformations are defined so far. The differentiation between these syndromes is difficult in some cases. Major manifestations of one of the microphthalmia/anophthalmia syndromes...
Giant Cell Tumor of Distal Phalanx in an Adolescent with Goltz-Gorlin Syndrome
INTRODUCTIONThe Goltz-Gorlin syndrome or focal dermal hypoplasia is a rare congenital disorder. This clinical entity was first described in 1962 by Goltz et al. (7). Cutaneous features include dermal atrophy and linear pigmentation, fat herniation through...
Glycogen Storage Disease Type 1b: An Early Onset Severe Phenotype Associated with a Novel Mutation (Ivs4) in the Glucose 6-Phosphate Translocase (Slc37a4) Gene in a Turkish Patient
INTRODUCTIONGlycogen storage disease type I (GSD-I) is a group of autosomal recessive disorders with an incidence of 1 in 100,000. The 2 major subtypes are GSD-Ia, which is caused by a deficiency of glucose-6-phosphatase (GóPase), and GSD-Ib, which is...
Holoprosencephaly Spectrum among Egyptian Patients: Clinical and Cytogenetic Study
INTRODUCTIONHoloprosencephaly (HPE, OMIM 236100) is a genetically heterogeneous disorder with structural anomaly of the brain, in which there is failed or incomplete separation of the forebrain early in gestation (3rd to 4th week after conception) (20)....
Results of Fifteen-Year Follow-Up from a Single Center: Findings and Risks for Tumor Development in Isolated Hemihyperplasia Cases
INTRODUCTIONIsolated hemihyperplasia (IH, OMIM 23500) can be defined as abnormal asymmetric growth of one or more body parts in the absence of an underlying disease. Asymmetric growth either may involve a half of the body, a single extremity, half of...
Single Median Maxillary Central Incisor Syndrome and Its Clinical Importance
Single median maxillary central incisor (SMMCI) is a rare dental anomaly. It may occur in association with other systemic abnormalities (short stature, pituitary insufficiency, microcephaly, choanal atresia, midnasal stenosis, and congenital nasal pyriform...
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