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Genetic Counseling

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https://www.readbyqxmd.com/read/30204977/double-trisomy-mosaicism-48-xxx-8-46-xx-in-a-female-the-first-reported-case
#1
LETTER
A Attig, L Ben Jemaa, L Kraoua, H Jilani, F Maazoul, R Mrad
No abstract text is available yet for this article.
2016: Genetic Counseling
https://www.readbyqxmd.com/read/30204976/oculo-dento-digital-dysplasia-in-a-tunisian-family-with-a-novel-gja1-mutation
#2
LETTER
A Attig, M Trabelsi, S Hizem, L Ben Jemaa, F Maazoul, S Chaouachi, R Mrad
No abstract text is available yet for this article.
2016: Genetic Counseling
https://www.readbyqxmd.com/read/30204975/an-interchange-trisomy-resulted-in-down-syndrome
#3
LETTER
E Tug, M Yirmibes Karaoguz, A Bakir
No abstract text is available yet for this article.
2016: Genetic Counseling
https://www.readbyqxmd.com/read/30204974/a-very-rare-cause-of-apnea-in-the-neonatal-period-joubert-syndrome
#4
LETTER
G Demirel, A Yilmaz, B Vatansever, H Karavar, S Gundogdu, S Vatansever, G Turanli, A Tastekin
No abstract text is available yet for this article.
2016: Genetic Counseling
https://www.readbyqxmd.com/read/30204973/severe-hydrocephalus-kidney-and-skeletal-anomalies-in-a-female-patient-with-mild-neurological-alterations
#5
A J L Brambila-Tapia, T Wegman-Ostrosky, D Garcia-Cruz, L E Figuera, G Castañeda-Cisneros, R E Jimenez-Arredondo, J Sanchez-Corona, J E Garcia-Ortiz
The appearance of untreated severe hydrocephalus with long-term survival is infrequent; here we report a case with these characteristics, mild neurological alterations and kidney and skeletal anomalies. A female patient showed severe hydrocephalus (initially mistaken with hydranencephaly) at 4 years old and left kidney ectopia (initially mistaken with renal agenesis); however, she was derived to the neurology service until she was 12 years old, when she began to present migraine and seizures. At 13 years old the patient was diagnosed with arrested hydrocephalus secondary to aqueduct stenosis, and the seizures worsen thereafter from atonic seizures to complex partial seizures (at 14 years old), presenting generalized seizures at 15 years old...
2016: Genetic Counseling
https://www.readbyqxmd.com/read/30204972/the-3rd-w522x-mutation-in-eif2ak3-gene-from-turkey-a-new-patient-with-wolcott-rallison-syndrome
#6
T Bahsi, A Unal, A Bakir, E F Perçin
Wolcott-Rallison Syndrome (WRS), also known as Multiple Epiphyseal Dysplasia with Early-onset Diabetes Mellitus is a rare autosomal recessive multisystemic disorder. Its characteristic clinical features are permanent neonatal or early infancy insulin-dependent diabetes and later onset skeletal dysplasia. Other frequent clinical manifestations are hepatic and renal dysfunction, mental retardation, cardiac abnormalities, exocrine pancreatic dysfunction, primary hypothyroidism and neutropenia. This report presents an 8-year-old WRS case who is found to have W522X mutation in EIF2AK3 gene which was only found in two other unrelated Turkish families...
2016: Genetic Counseling
https://www.readbyqxmd.com/read/30204971/matthew-wood-syndrome-a-case-with-dextrocardia-and-streak-gonads
#7
P Ozyavuz Cubuk, L Ho, B Reversade, E F Perçin
Matthew-Wood syndrome (MWS), also termed Microphthalmia, syndrome 9 (MCOPS9, MIM 601186), Spear syndrome, or pulmonary hypoplasia, diaphragmatic hernia, anophthalmia and cardiac defects syndrome (PDAC syndrome), is an autosomal recessive disorder characterised by ocular, respiratory and cardiac abnormalities. Mutations in retinoic acid 6 gene (STRA6) have been reported in clinically diagnosed patients with MWS. Here we presented a case with MWS, who has characteristic findings of the syndrome as well as dextrocardia as an undescribed feature, and bilateral streak gonads which was described only in one patient previously...
2016: Genetic Counseling
https://www.readbyqxmd.com/read/30204970/cobalamin-c-deficiency-with-infantile-spasm-and-cutaneous-findings-a-unique-case
#8
Z Öztürk, E Arhan, K Aydin, T Hirfanoğlu, L Tümer, I Okur, A Serdaroğlu, Y Akbaş, B Karaoğlu
Cobalamin C (CbIC) deficiency is a rare disorder of vitamin B12 metabolism which results from impaired conversion of both its active forms methylcobalamin and adenosylcobalamin. Early onset cblC typically presents in the first year of life with hypotonia, lethargy, seizures, microcephaly, hydrocephalus, developmental delay and other multisystem involvement including hematologic, ocular, renal, hepatic and cardiac symptoms. We report a case of a female infant with cblC deficiency who presented with seizures, developmental delay and hypopigmented cutaneous lesions...
2016: Genetic Counseling
https://www.readbyqxmd.com/read/30204969/a-new-isolated-20q-interstitial-duplication-case-and-its-clinical-comparison-with-similar-isolated-cases
#9
A H Cebi, G Karaguzel, M Karakus, R Polat, S Seyhan, H Onder, M Ikbal
Duplications of 20q are rare. Here we report a 15 years old boy with de novo duplication of 17.1 Mb at chromosome 20q. We made a comparison with the other isolated 20q duplication cases. There are phenotypic similarities between the patients who have the same affected chromosomal regions. We also showed a clinical follow up of the patient. There may be a relationship with Glaucoma and Graves disease between the chromosomal region and these diseases may occur at the other patients when they get older.
2016: Genetic Counseling
https://www.readbyqxmd.com/read/30204968/submicroscopic-duplication-of-8q24-3-region-is-a-potential-candidate-for-disorders-of-sex-development
#10
F N Dilek, E F Perçin, H Kayserili, M A Ergün, N Saka
Some of the disorders of sex development (DSD), including 46, XX testicular DSD formerly called "XX maleness" and 46, XY DSD with partial or complete gonadal dysgenesis primarily affect the gonads. Genetic alterations in ten unrelated females with complete 46, XY gonadal dysgenesis (GD) were analyzed using an Array 2.7 M platform with whole genome coverage. The analysis result suggested that the most significant region maps to chromosome 8q24.3 which were previously reported by another independent study with a similar patient cohort and this region being probable candidate related to complete 46, XY GD...
2016: Genetic Counseling
https://www.readbyqxmd.com/read/30204967/genetic-counselling-in-feingold-syndrome-and-a-novel-mutation
#11
T Atik, M S Güvenç, H Onay, F Özkinay, Ö Çoğulu
Feingold syndrome (FS) is an autosomal dominant hereditary disorder characterised by finger and toe abnormalities, microcephaly, facial dysmorphism, gastrointestinal atresias such primarily as oesophageal and/or duodenal atresia and mild to moderate mental retardation. Approximately 60% of cases have an affected parent. MYCN is the only gene in which mutations are known to cause FS. In this report, we present a case with Feingold Syndrome having a novel mutation in MYCN gene and discuss genetic counselling and prenatal diagnosis due to pregnancy of the patient's mother...
2016: Genetic Counseling
https://www.readbyqxmd.com/read/30204966/mucolipidosis-ii-infants-presenting-with-skeletal-deformities-mimicking-rickets-and-a-new-mutation-in-gnptab-gene
#12
B G Nur, Y Erdogan, Y Curek, M Akcakus, N Oygur, I Bircan, Mihci E
Mucolipidosis II or I-cell disease is a rare lysosomal enzyme hydrolase trafficking due to deficient activity of the multimeric enzyme UDP-Nacetylglucosamine-l-phosphotransferase. It is a severe inborn error of lysosomal storage that causes progressive multisystem deterioration and death within the first year of life. The diagnosis of ML II is often difficult in an infant due to clinical variety, phenotypic overlap and the enzyme analysis required. Mucolipidosis II and rickets may have similar physical, biochemical and radiographic findings in newborns...
2016: Genetic Counseling
https://www.readbyqxmd.com/read/30204965/an-unusual-presentation-of-joubert-syndrome-and-related-disorders-in-a-newborn-panhypopituitarism
#13
S Erol, N Demirel, A Y Bas, B Ozcan, I H Celik, D Ulubas Isik
The Joubert syndrome is characterized by hypotonia, ataxia, facial dysmorphism, abnormal eye movement, irregular breathing pattern and cognitive impairment. The molar tooth sign is the pathognomonic midbrain-hindbrain malformation for Joubert syndrome. Joubert syndrome and related disorders (JSRD), are the clinically and genetically heterogen disorders in which the obligatory hallmark is the molar tooth sign (MTS). In this report, it was described the association of the molar tooth sign, absence of pituitary gland and corpus callosum agenesis on an infant with JSRD...
2016: Genetic Counseling
https://www.readbyqxmd.com/read/30204964/two-cases-with-different-epilepsy-type-and-dysmorphic-features-associated-with-17q21-31-microdeletion-syndrome
#14
E Uctepe, D Aktas, M Alikasifoglu, E Gunduz, F M Sonmez
The 17q21.31 microdeletion syndrome is characterized by intellectual disability, epilepsy, facial dysmorphism and friendly behavior. Recently, KANSLJ gene has been considered as a major causal gene for this phenotype. Here we report on two Turkish patients with different seizure types and additional dysmorphic features associated with 17q21.31 microdeletion syndrome. A 4 year-old female patient with generalized tonic-clonic seizures, mild mental retardation, dysmorphic features and friendly behavior and a 14 years-old female with intractable epilepsy, different dysmorphic features, severe mental and motor retardation and self-mutilation were evaluated by array-based comparative genomic hybridization (microarray CGH)...
2016: Genetic Counseling
https://www.readbyqxmd.com/read/30204963/ichthyosis-linearis-circumflexa-not-always-a-part-of-netherton-syndrome
#15
S Gunes Bilgili, A S Karadag, O Calka, S Onder, I Bayram
Ichthyosis Linearis Circumfiexa (ILC) is a rarely seen autosomal recessive keratinization disorder and is characterized by erythematous, polycystic, plaques with 'double-edged' scales. Its histological features resemble psoriasis. A triad of ichthyosis (usually Ichthyosis Linearis Circumfiexa), trichorrhexis invaginata (a distinctive hair shaft disorder) and atopy is named as Netherton syndrome. Herein, we report a 12 year-old girl presenting with ILC not accompanied with typical atopy findings and hair shaft disorder...
2016: Genetic Counseling
https://www.readbyqxmd.com/read/30204962/associated-anomalies-in-cases-with-limb-reduction-deficiencies
#16
C Stoll, Y Alembik, B Dott, M P Roth
Infants with limb reduction deficiencies (LRD) often have other associated congenital anomalies. The purpose of this investigation was to assess the prevalence and the types of associated anomalies in a defined population. The associated anomalies in infants with LRD were collected in all livebirths, stillbirths and terminations of pregnancy during 29 years in 387,067 consecutive births in the area covered by our population-based registry of congenital malformations. Of the 317 infants bom with LRD during this period, representing a prevalence of 8...
2016: Genetic Counseling
https://www.readbyqxmd.com/read/30204961/phenotypic-consequences-and-the-malignancy-risk-in-familial-noonan-syndrome-due-to-a-rare-p-s427g-raf1-mutation
#17
M Pelc, E Ciara, A Jezela-Stanek, M Krajewska-Walasek
Mutations leading to dysregulation of the Ras/MAPK signal transduction cascade are a common cause of Noonan syndrome (NS) and play a key role in the pathogenesis of many human malignancies. To date, about 24 various RAF1 germline mutations were identified in NS. The incidence of malignancies in NS patients with RAF1 mutations has not been reported so far. However, in a few cases somatic RAF1 mutations were observed in cancer, including two described in therapy-related acute myeloid leukaemia (t-AML). We present a case of an adult female patient with Noonan syndrome and her affected mother with a rare RAF] germline mutation c...
2016: Genetic Counseling
https://www.readbyqxmd.com/read/30204960/roberts-syndrome-clinical-and-cytogenetic-studies-in-8-egyptian-patients-and-molecular-studies-in-4-patients-with-genotype-phenotype-correlation
#18
S Ismail, M Essawi, N Sedky, H Hassan, A Fayez, N Helmy, M Shehab, D Farouk, M Elruby, G Otaify, A Eldarsh, L Hosny, K Gaber, E H A Aboul-Ezz, M I Ramzy, M I Mehrez, N F Hassib, S M A Elhadidi, M S Aglan, S A Temtamy
The Roberts syndrome (RBS) is a rare autosomal recessive disorder caused by mutation in ESCO2 gene. Among over 150 reported international cases, 16 cases are Egyptian including the presently reported patients. The current study reports 8 new Egyptian patients from 7 unrelated consanguineous families investigating clinical phenotype as well as cytogenetic changes in all cases and mutational spectrum in 4 cases. Clinical, orodental, cytogenetic and molecular studies were done to investigate genotype/phenotype correlation...
2016: Genetic Counseling
https://www.readbyqxmd.com/read/30204959/partial-trisomy-5p12-q-11-2-resulting-from-a-marker-chromosome-a-new-case-report-with-attention-deficit-hyperactivity-disorder
#19
H B Erdem, I Sahin, S Tasdemir, A Tatar
Partial trisomy of chromosome 5 was first described by Lejeune et al. in 1964 on the short arm (12). The vast majority of the partial trisomy 5 cases include 5p duplications; however we reported a small supernumerary marker chromosome. General symptoms include developmental delay, mental retardation, seizures, respiratory difficulties, congenital heart defects, abdominal muscle hypoplasia and dysmorphic features such as macrocephaly, enlarged anterior fontanelle, dolichocephaly, upslanting palpebral fissures, epicanthal folds, hypertelorism, abnormal ears, midface hypoplasia, short nose, broad nasal bridge and microretrognathia...
2016: Genetic Counseling
https://www.readbyqxmd.com/read/30204958/the-relationship-between-congenital-heart-defects-and-e-nos-gene-in-down-syndrome
#20
M Okur, R Eroz, M S Bektas, S Gulsen, A Bahadir, Y Turker, C Gunes
The aim of the study was to compare the effects of three eNOS gene polymorphisms associated with congenital heart defects, between Down syndrome patients with and without cardiac anomalies. Transthoracic echocardiographic examinations and eNOS single-nucleotide polymorphisms were investigated on seventy-five patients, prospectively. The frequencies of mutant alleles in the eNOS promoter (the -786T/C polymorphism) and exon 7 mutant alleles (the 894G--->T polymorphism) were significantly higher in Down syndrome patients with and without cardiac anomalies...
2016: Genetic Counseling
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