Recently added articles from Genetic Counseling:

PRENATAL DIAGNOSIS OF TRISOMY 21: REGISTRATION RESULTS FROM A SINGLE GENETIC CENTER

Apr 01, 2008; Witters, I; Fryns, J P ... Summary: Prenatal diagnosis of trisomy 21: registration results from a single genetic center: This is a retrospective review of all collected amniotic fluid samples, chorionic villus samples and other fluid-aspirations (hygroma colli fluid/ urine from megacystis) over an 11-year period ...

CRANIOSYNOSTOSIS AND CONGENITAL TRACHEAL ANOMALIES IN AN INFANT WITH PFEIFFER SYNDROME CARRYING THE W290C FGFR2 MUTATION

Apr 01, 2008; Chen, C-P; Lin, S-P; Su, Y-N; Chien, S-C; Tsai, F-J; Wang, W ... Summary: Craniosynostosis and congenital tracheal anomalies in an infant with Pfeiffer syndrome carrying the W290C FGFR2 mutation: Pfeiffer syndrome (OMIM 101600) is an autosomal dominant disorder characterized by craniosynostosis, midface hypoplasia, ocular proptosis and digital malformations ....

GOLDENHAR SYNDROME ASSOCIATED WITH GROWTH HORMONE DEFICIENCY

Apr 01, 2008; Yusufoglu, A M; Çetinkaya, E; Ceylaner, S; Aycan, Z; Kibar, E; Ekici, F; Kizilgün, M ... Summary: Goldenhar syndrome associated with growth hormone deficiency: Goldenhar syndrome is a rare disorder of unknown etiology. The most frequent findings are vertebral defects, hemifacial microsomia and ear abnormalities. We present an 8-year-old boy with oculo-auriculo-vertebral (Goldenhar) ...

APPARENT LENZ MICROPHTHALMIA SYNDROME: A PATIENT WITH UNUSUAL MANIFESTATIONS

Apr 01, 2008; Okumus, N; Zenciroglu, A; Demirel, N; Bas, A Y; Ceylaner, S ... Summary: Apparent Lenz Microphthalmia Syndrome: a patient with unusual manifestations: Lenz microphthalmia syndrome was first described by Lenz et al. in 1955 (9). The cardinal features of the syndrome are microphthalmia or anophthalmia, microcephaly, mental retardation, external ear, digital, ...

TUMORAL CALCINOSIS DUE TO GALNT3 c.516-2A > T MUTATION IN A BLACK AFRICAN FAMILY

Apr 01, 2008; Laleye, A; Alao, M J; Gbessi, G; Adjagba, M; Marche, M; Coupry, I; Redonnet-Vernhet, I; Lepreux, S; Ayivi, B; Darboux, R B; Lacombe, D; Arveiler, B ... Summary: Tumoral Calcinosis due to GALNT3 C.516-2A >T mutation in a black African family: Familial Tumoral Calcinosis (FTC) is a rare autosomal recessive disorder of the phosphocalcic metabolism caused by mutations in the FGF23 or GALNT3 genes. We have identified a Beninese family in which ...

A CASE WITH BILATERAL RADIO-ULNAR SYNOSTOSIS

Apr 01, 2008; Koç, A; Kaymak, A Ö; Karaer, K; Ergün, M A; Aksu, T; Perçin, E F ... Summary: A case with bilateral radio-ulnar synostosis: Congenital radio-ulnar synostosis may be an isolated abnormality or additional abnormalities may accompany it. It may also be found as a part of well-known syndromes. We present a case with bilateral congenital radio-ulnar synostosis, speech ...

PARTIAL TRISOMY OF THE DISTAL PART OF 10q: A REPORT OF TWO EGYPTIAN CASES

Apr 01, 2008; Aglan, M S; Kamel, A K; Helmy, N A ... Summary: Partial trisomy of the distal part of 10q: A report of two Egyptian cases: Partial trisomy of the distal third of the long arm of chromosome 10 is a well defined but rare syndrome. Most cases result from an unbalanced translocation. Growth retardation, developmental delay and ...

COMPLEX REARRANGEMENTS OF CHROMOSOME 15 IN TWO PATIENTS WITH MILD/ATYPICAL PRADER WILLI SYNDROME

Apr 01, 2008; Salavoura, K; Kolialexi, A; Sofocleous, C; Kalaitzidaki, M; Pampanos, A; Kitsiou, S; Mavrou, A ... Summary: Complex rearrangements of chromosome 15 in two patients with MILD/ATYPICAL Prader Willi syndrome: Multiple mechanisms are responsible for the development of Prader Willi syndrome (PWS), the most common genetic cause of obesity in childhood. Molecular findings are usually deletions and ...

SLEEP PROBLEMS IN INDIVIDUALS WITH 11q TERMINAL DELETION DISORDER (JACOBSEN SYNDROME)

Apr 01, 2008; Maas, A P H M; Grossfeld, P D; Didden, R; Korzilius, H; Braam, W J; Smits, M G; Curfs, L M G ... Summary: Sleep problems in individuals with 11q terminal deletion disorder (Jacobsen syndrome): Characteristics of sleep and sleep problems were investigated in 43 individuals with 11q terminal deletion disorder (Jacobsen syndrome). Data were collected using a sleep questionnaire. Ten ...

AN ADDITIONAL MANIFESTATION IN ACROCALLOSAL SYNDROME: TEMPORAL LOBE HYPOPLASIA

Apr 01, 2008; Aykut, A; Cogulu, O; Ekmekci, A Y; Ozkinay, F ... Summary: An additional manifestation in acrocallosal syndrome: temporal lobe hypoplasia: Acrocallosal Syndrome is a rare genetic disorder which is characterized by moderate to severe mental retardation, agenesis or hypoplasia of the corpus callosum and Polydactyly of fingers and toes. The ...

SPEECH AND LANGUAGE IN SIMPSON-GOLABI-BEHMEL SYNDROME: A CASE REPORT

Apr 01, 2008; Van Borsel, J; Baudonck, N; Verhaaren, H; Van Lierde, K ... Summary: Speech and language in Simpson-Golabi-Behmel syndrome: a case report: Simpson-Golabi-Behmel syndrome (SGBS) is an X-linked disorder caused by a mutation of the glypican-3 gene. The physical characteristics associated with SGBS have been documented in several papers, but information on ...

HOMOZYGOSITY OF Hb G-COUSHATTA COMBINED WITH HETEROZYGOUS IVS-I-110(G[arrow right]A) IN AN ADULT PATIENT

Apr 01, 2008; Hergersberg, M; Herklotz, R; Zerlauth, M; Huber, A R ... The male proband of Turkish descendance was 35 years of age at the time of the examination. The clinical indication for hematological analysis was the request for HbA 1c quantification during diabetes follow-up associated with hyperlipidemia. Routine HbA 1c examination by cation exchange high ...

TRANSIENT ABNORMAL MYELOPOIESIS OF MOSAIC TRISOMY 21 PRESENTING FETOPLACENTAL CYTOGENETIC DISCREPANCY, HEPATOSPLENOMEGALY, OLIGOHYDRAMNIOS AND ABNORMAL HEMATOLOGICAL FINDINGS

Apr 01, 2008; Chen, C-P; Lin, S-P; Tsai, F-J; Lin, H-H; Chern, S-R; Chuang, C-K; Lee, C-C; Wang, W ... A 34-year-old, gravida 2, para 1 woman was referred for evaluation of fetal hepatosplenomegaly at 34 weeks' gestation. Prenatal ultrasound revealed a singleton fetus with a fetal biometry consistent with 32 weeks, fetal hepatosplenomegaly, placentomegaly and severe oligohydramnios. Both ...

23rd EUROPEAN CONFERENCE ON PHILOSOPHY OF MEDICINE AND HEALTH CARE

Apr 01, 2008; Anonymous ... ANNOUNCEMENT "Sources and Perspectives of Bioethics" 19-22 August, 2009, Tübingen, Germany This conference will be organised by the European Society for Philosophy of Medicine and Healthcare (ESPMH), the Institute for Ethics and History of Medicine and the ...

PREVALENCE OF [beta]-THALASSAEMIA AND SICKLE CELL TRAITS IN PREMARITAL SCREENING IN AL-QASSIM, SAUDI ARABIA

Apr 01, 2008; El-Tayeb, E-N H; Yaqoob, M; Abdur-Rahim, K; Gustavson, K-H ... Summary: Prevalence of β-thalassaemia and sickle cell traits in premarital screening in Al-Qassim, Saudi Arabia: To study the prevalence of β-thalassaemia and sickle cell traits in the Al-Qassim region, Saudi Arabia. The Ministry of Health of Saudi Arabia launched a countrywide ...