Genetic Counseling

Articles from Vol. 18, No. 4, 2007

A Boy with Small Supernumerary Marker Chromosome X Identified by Fish
Summary: A boy with small supernumerary marker chromosome X identified by FISH: Marker or ring X chromosomes are frequently seen in Ullrich-Turner Syndrome with 46,X,r(X) karyotype, but only 8 children were reported with an extra marker X chromosome...
A Theoretical Psychological Perspective on Predictive Testing for Late Onset Hereditary Diseases
Summary: A theoretical psychological perspective on predictive testing for late onset hereditary diseases: Because of the burden of serious late onset hereditary diseases, psychological counselling is commonly included in the predictive testing procedure....
A Y/15 Translocation in a 45,x Male with Prader-Willi Syndrome
Summary: A Y/15 translocation in a 45,X male with Prader-Willi syndrome: We report a male neonate with a 45 X karyotype; the long arm of a chromosome 15 was translocated onto the proximal long arm of the Y chromosome. Breakpoints were identified by in...
Ethnic Specific Background of Mutations in Bulgarian Patients with Wilson Disease
Wilson disease (WD) is an autosomal recessive disorder caused by a defect in a metal transporting P-type ATPase (4, 16), resulting in toxic copper accumulation in various tissues and cells with prevalence of 1:30 000 (9). Mutation in the ATP7B gene leads...
FREQUENCY OF THE 35delg ALLELE CAUSING NON-SYNDROMIC RECESSIVE DEAFNESS IN THE ALGERIAN PATIENTS
Summary: Frequency of the 35delG allele causing non-syndromic recessive deafness in the Algerian patients: Deafness is a heterogeneous disorder showing different patterns of inheritance and involving a multitude of different genes. Mutations in the GJB2...
GENETIC COUNSELING OF PRENATALLY DETECTED UNBALANCED t(Y;15)(q12;p13)
A 38-year-old, gravida 2, para 2, woman, was referred for amniocentesis at 18 gestational weeks because of advanced maternal age. Amniocentesis revealed one chromosome 15 with a very large short arm referred as 15p+ (Fig. 1). The 15p+ chromosome had...
Lethal Multiple Pterygium Syndrome Associated with Omphalocele
A 27-year-old, gravida 2, para 1, woman was referred to the hospital at 31 gestational weeks because of rupture of the membranes and fetal anomalies. Polyhydramnios was noted prior to rupture of the membranes. The woman had a 1.5-year-old healthy daughter....
PARACENTRIC INVERSION OF Yq AND REVIEW OF THE LITERATURE
Summary: Paracentric inversion of Yq and review of the literature: We report on the second prenatal diagnosis of familial paracentric inversion of the long arm of Y chromosome [46, X, inv(Y)(q11.2q12)]. The anomaly was detected through an amniocentesis...
PARTIAL TRISOMY 1(q25qter) DUE TO A DE NOVO UNBALANCED 1;19 TRANSLOCATION IN A NEONATE
Summary: Partial trisomy 1(q25qter) due to a de novo unbalanced 1;19 translocation in a neonate: We describe a male neonate with a duplication of 1(q25qter) due to de novo unbalanced translocation (1;19)(q25;pter). He had macrocephaly, wide sutures and...
Phenotypic Variability in Micro Syndrome: Report of New Cases
Summary: Phenotypic variability in micro syndrome: report of new cases: The authors describe seven Egyptian patients (5 males and two females) with microcephaly, mild microphthalmia, microcornea, congenital cataracts and hypogenitalism (only in males)....
SUPERNUMERARY CHROMOSOME Der(22)t(11;22): EMANUEL SYNDROME ASSOCIATES WITH NOVEL FEATURES
Summary: Supernumerary chromosome der(22)t(11;22): Emanuel syndrome associates with novel features: Emanuel syndrome results from +der(22)t(11q23;22q11). Cleft palate, ear anomalies, heart defects, genital anomalies, hypotonia, and mental retardation...
THE T(4;8) IS MEDIATED BY HOMOLOGOUS RECOMBINATION BETWEEN OLFACTORY RECEPTOR GENE CLUSTERS, BUT OTHER 4p16 TRANSLOCATIONS OCCUR AT RANDOM
Summary: The t(4;8) is mediated by homologous recombination between olfactory receptor gene clusters, but other 4p16 translocations occur at random: The t(4;8)(p16;p23) is the second most common constitutional chromosomal translocation and is caused...
Transposition of Great Arteries in an Infant Born after Prenatal Diagnosis of Trisomy 20 Mosaicism
Summary: Transposition of great arteries in an infant born after prenatal diagnosis of trisomy 20 mosaicism: We report a case of prenatally diagnosed mosaic trisomy 20 in cells cultured from amniotic fluid. Trisomy 20 was present in 7 cells (13 percent)...
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