Genetic Counseling

Articles from Vol. 21, No. 4, 2010

A 5.3-MB DUPLICATION OF 9p12[arrow Right]13.1 CHARACTERIZED BY ARRAY CGH IN A FEMALE INFANT WITH DEVELOPMENTAL DELAY
The female infant was the first child of a 28-year-old mother and a 32-year-old father. The parents were healthy and non-consanguineous. The family history was unremarkable. The infant was delivered uneventfully at 38 weeks of gestation with a birth...
A Case of Lower Mesodermal Defects Sequence
Summary: A case of lower mesodermal defects sequence: Here, we describe a stillborn fetus who had lower mesoderma! detects sequence associated with craniorachischisis, anencephaly, bilateral pulmonary hy|x;;jlasia.Key-words: Lower mesoderma! defects...
A New Association or Coincidence: Achondroplasia and Unilateral Renal Agenesis
Achondroplasia (Ach) (MIM 100800) is the most common non-lethal form of short-limbed dwarfism which is caused by activating mutations in the gene that encodes Fibroblast Growth Factor Receptor 3 (FGFR3) on chromosome 4pl6.3 (1). The incidence for Ach...
CLINICAL DELINEATION OF A PATIENT WITH TRISOMY 1q32-Qter AND MONOSOMY 5p RESULTING FROM A FAMILIAL TRANSLOCATION 1;5
Summary: Clinical delineation of a palien! with trisomy 1q32-qtcr und monosoiny Sp resulting from a familial translocation 1:5: We describe a patient who had multiple malformations including veiilrieuloniegaly, colpocephaly, corpus callosum, cerebellum...
Educational-Support Groups for Brca Mutation Carriers Satisfy Need for Information but Do Not Affect Emotional Distress
Summary: Educational-support groups for BRCA mutution carriers satisfy need for information huí cío not affect emotional distress:Introduction: Due to high cancer risks, women carrying a RRCA 1/2 mutation face a complex choice between breast and ovarian...
Fryns Syndrome with Atypical Findings - with Large Midline Cleft on Forehead but Normal Cranial MRI Findings
Summary: Fryns syndrome with atypical findings - with large midline cleft on forehead bnl normal cranial MRI findings: We report a newborn with Fryns syndrome and atypieal findings like a large midline elet't on forehead. Abnormal findings included congenital...
Genetic Alterations in Gastric Precancerous Lesions
Summary: Genetic alterations in gastric precaneemus lesiona: To investigate the occurrence of 1 7p(p53) loss of heterozygosity (LOH) and increased 4N or aneuploidy in gastric precancerous lesions (GPL), and their association with llelicohacter pvlori...
Hanhart Syndrome
Summary: Hanhart syndrome: We report on a male infant with Hanhart Syndrome. It is classified in "oromandibular limb hypogenesis syndromes" which are a group of rare conditions involving congenital malformations of tongue, mandible, and limbs.Key words:...
Hopelessness of Mothers Who Have Children with Down Syndrome
Summary: Hopelessness of mothers who have children with Down syndrome: This study was conducted to determine hopelessness status of mothers who have children with Down syndrome. Beck Hopelessness Scale was used in this restrictive type study. The average...
Medical Problems in Children with Down Syndrome in the Erzurum Area of Turkey
Summary: Medical problems in children with Down svnc/rome in the Erznnim area of Turkey: Down syndrome (DS) is diagnosed in - 1 Per 800 live births and is the most common known genetie cause of medical problems. To determine the prevalence of common...
PRENATAL DIAGNOSIS OF PARTIAL MONOSOMY 1q (1Q42.3[arrow Right]qter) ASSOCIATED WITH HYDROCEPHALUS AND CORPUS CALLOSUM AGENESIS
A 27-year-old primigravid woman underwent amniocentesis because of abnormal sonographic findings of severe hydrocephalus at 2 1 weeks of gestation. Level II ultrasound revealed a singleton fetus with fetal biometry equivalent to 19 weeks, bilateral ventriculomegaly...
REPLY TO DUNDAR et. Al. WHY A CAUSAL ASSOCIATION BETWEEN CLASSICAL EUCHROMATIC VARIANTS OF CHROMOSOME 9 AND MULTIPLE MISCARRIAGES IS UNLIKELY
An extra G-dark C-negative band within the major 9ql2/qh heterochromatic block of chromosome 9 was first described over 30 years ago by Madan (6). Since then, a number of further "euchromatic variants" with extra G-dark C-negative bands in 9ql2/qh have...
Screening for the M694v Mutation of the Familial Mediterranean Fever (Fmf) Gene in 604 French Patients
Familial Mediterranean Fever (FMF, MIM 249100) is an autosomal recessive disorder characterized by recurrent attacks of fever and inflammation in the peritoneum, synovium, or pleura, accompanied by pain (9). The most severe complication of this disease...
The Case of an Infertile Male with an Uncommon Reciprocal X-Autosomal Translocation: How Does This Affect Male Fertility?
Summary: The case of an infertile male with an uncommon reciprocal X-autosomal translocation: how does this affect male fertility?: Infertility is defined as the inability to conceive after one year of regular unprotected intercourse. Constitutional...
VARIEGATED-LIKE MOSAICISM AND RING SYNDROME IN A R(4) BOY. APPRAISAL OF 38 PATIENTS WITH A FAIRLY COMPLETE RING 4
Summary: Variegaled-like mosaicism and ring syndrome ina r(4) bay. Appraisal of 38 patients with a fairly complete ring 4: A 13-monlh-old hoy with normal development and growth failure of prenatal onset but no other physical stigmata had a 46,XY,r(4)(pl6.3q35).ish...
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.