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Genetic Counseling

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https://www.readbyqxmd.com/read/27192898/a-rare-combination-of-45-x-46-xy-mosaicism-and-y-chromosome-microdeletion-in-an-infertile-man-with-azoospermia
#1
LETTER
H Aydemir, M Karkucak, H I Cimen, F Halis, S Kumsar, A E Sonbahar, T Yakut
No abstract text is available yet for this article.
2016: Genetic Counseling
https://www.readbyqxmd.com/read/27192897/y-chromosome-de-novo-recombinants-implications-for-nomenclature
#2
LETTER
H Rivera
No abstract text is available yet for this article.
2016: Genetic Counseling
https://www.readbyqxmd.com/read/27192896/axillary-artery-thrombosis-in-a-newborn-homozygous-for-methylenetetrahydrofolate-reductase-a1298c-mutation-and-heterozygous-for-factor-v-leiden-g506a-mutation
#3
LETTER
D Dilli, N Fettah, H G Çinar, E Özyazici, A Dursun, A Zenciroğlu, N Okumuş
No abstract text is available yet for this article.
2016: Genetic Counseling
https://www.readbyqxmd.com/read/27192895/hypophosphatasia-with-the-association-of-inv-1-q11-q21-3-and-cleft-palate
#4
LETTER
O Giray Bozkaya, B Iscan, O Aksel, N Duman, A Kumral, H Ozkan, D Ercal
No abstract text is available yet for this article.
2016: Genetic Counseling
https://www.readbyqxmd.com/read/27192894/oculoectodermal-syndrome-a-new-case-with-giant-cell-granulomas-and-non-ossifying-fibromas
#5
S Mermer, G Kayhan, E Karacelebi, F E Percin
Oculoectodermal syndrome (OES) is a very rare disorder with an unknown etiology and characterized by aplasia cutis congenita, epibulbar dermoid and hyperpigmentation areas on the skin. To the best of our knowledge, two cases of OES have been reported to date with recurrent giant cell granuloma in the jaw and one of them also had a non-ossified fibroma in the long bones. Herein, we report the second case with aplasia cutis congenita, epibulbar dermoid, hyperpigmentation along Blaschko lines and also giant cell granuloma in the jaw and non-ossified fibromas in the bones...
2016: Genetic Counseling
https://www.readbyqxmd.com/read/27192893/partial-oculocutaneous-albinism-and-immunodeficiency-syndromes-ten-years-experience-from-a-single-center-in-turkey
#6
T Patiroglu, H H Akar, E Unal, S C Chiang, H Schlums, B Tesi, M Y Ozkars, M Karakukcu
BACKGROUND AND AIM: Partial oculocutaneous albinism and immunodeficiency (OCA-ID) diseases are autosomal recessive syndromes characterized by partial hypopigmentation and recurrent infections. Moreover, some OCA-ID syndromes confer susceptibility to develop a life-threatening hyperinflammatory condition called hemophagocytic lymphohistiocytosis (HLH). We investigated the genetic, clinical and immunological characteristics of 20 OCA patients. MATERIAL AND METHODS: Herein, we present the clinical and immunological characteristics of 20 OCA patients who referred to the Department of Pediatric Immunology, Erciyes University Medical Faculty in Kayseri, Turkey between 2004 and 2014...
2016: Genetic Counseling
https://www.readbyqxmd.com/read/27192892/a-molecularly-characterized-interstitial-deletion-encompassing-the-11q14-1-q23-3-region-in-a-case-with-multiple-congenital-abnormalities
#7
Z Cetin, O Altiok-Clark, S Yakut, B Guzel-Nur, E Mihci, S Berker-Karauzum
Interstitial deletion of chromosome 11 long arm is a rare event. In most of the interstitial deletions on the long arm of chromosome 11 both the position and the size of these deletions are heterogeneous making a precise karyotype-phenotype correlation. In only a few of the reported cases has the deletion been molecularly characterized. Our patient was a 13-year-old male presented; mental motor retardation, strabismus, myopia, retinopathy, sensorineural hearing loss, a long and triangular face, a broad forehead, hypotelorism, nasal septal deviation, a beaked nose, hypoplastic ala nasie, bilateral low-set ears, a high arched palate, crowded teeth, retrognathia, thin lips, a long neck, and sloping shoulders, hyperactive behavior, pulmonary stenosis and lumbar scoliosis...
2016: Genetic Counseling
https://www.readbyqxmd.com/read/27192891/22-5-mb-deletion-of-13q31-1-q34-associated-with-hpe-dwm-and-hscr-a-case-report-and-redefining-the-smallest-deleted-regions
#8
M Y Alp, A H Çebi, S Seyhan, A Cansu, H Aydin, M Ikbal
Partial deletion of the long arm of the chromosome 13, 13q deletion syndrome is a rare chromosomal disorder characterized by severe growth and mental retardation, microcephaly, facial dysmorphism, brain malformations (holoprosencephaly, Dandy-Walker malformation), distal limb defects, eye anomalies, genitourinary and gastrointestinal tract malformations (Hirschsprung's disease). Approximately 1.2 Mb region in 13q32 was suggested as minimal critical region which is responsible for severe mental and growth retardation and brain anomalies...
2016: Genetic Counseling
https://www.readbyqxmd.com/read/27192890/partial-trisomy-4p-and-partial-monosomy-13q-case-report-and-a-literature-review
#9
REVIEW
S Puvabanditsin, G Herrera-Garcia, N Gengel, K Hussein, M February, J Mayne, R Mehta
We report on a term first born dichorionic-diamniotic twin with deletion of the distal long arm of chromosome 13, partial trisomy of the short arm of chromosome 4, intrauterine growth retardation, and multiple anomalies including microcephaly, colpocephaly, absent corpus callosum, bulbous tip of the nose, large and low set ears, macroglossia, thin upper lip, double outlet right ventricle, atria/ventricular septal defect, cleft mitral valve, pulmonary stenosis, single umbilical artery, multicystic dysplastic left kidney, sacral dimple, anterior displacement of anus, simian creases, abnormal thumb (congenital clasped thumb), overlapping toes, and congenital hypothyroidism...
2016: Genetic Counseling
https://www.readbyqxmd.com/read/27192889/co-occurrence-of-primary-microcephaly-caused-by-a-novel-homozygous-aspm-mutation-along-with-x-linked-ichthyosis-in-the-same-patient
#10
M S Abdel-Hamid, M F Ismail, H A Darwish, L K Effat, M S Zaki, G M H Abdel-Salam
Autosomal recessive primary microcephaly is a heterogeneous genetic disorder caused by genes that affect neurogenesis. This form of microcephaly has not been associated with other congenital anomalies. ASPM mutations have been identified as the major cause implicated in autosomal recessive primary microcephaly. X-linked recessive ichthyosis, is an inborn error of steroid sulfatase metabolism characterized by dark and adhesive scaly skin. Here, we examined an Egyptian boy presenting with microcephaly and simplified gyral pattern...
2016: Genetic Counseling
https://www.readbyqxmd.com/read/27192888/clinical-features-and-genetic-analysis-of-six-patients-with-wiskott-aldrich-syndrome-reporting-two-novel-mutations-experience-of-erciyes-university-kayseri-turkey
#11
T Patiroglu, C Klein, H Eke Gungor, M A Ozdemir, M Witzel, M Karakukcu, J Sawalle-Belohradsky, R Conca, E Unal
AIM: The Wiskott-Aldrich syndrome (WAS) is an X-linked immunodeficiency characterized by micro-thrombocytopenia, eczema, and recurrent infections. We aimed to share our experience with six children with WAS, including two patients with two novel mutations. MATERIAL AND METHOD: We present phenotypical and laboratory description of six patients with WAS. The initial clinical presentation, biochemical and radiological features, molecular diagnosis together with long-term follow-up data are provided...
2016: Genetic Counseling
https://www.readbyqxmd.com/read/27192887/a-further-patient-of-pure-15q-deletion-clinical-and-molecular-cytogenetic-findings
#12
A Ece Solmaz, B Durmaz, M D Braekeleer, O Cogulu, F Ozkinay
A deletion of the distal long arm of chromosome 15 is generally reported with the formation of ring chromosome 15, whereas an isolated 15q deletion is rarely described. Here we report an 11 year-old girl, from non-consanguineous parents, who was referred to the Pediatric Genetics Department with growth retardation and multiple congenital abnormalities. In her medical history, she had a cleft palate, hip dislocation and crossed renal ectopia. Dysmorphological evaluation revealed a triangular face, low-set ears, fissured cleft tongue, micrognathia, proximally placed hypoplastic thumbs, genu valgus, 2-3 toe skin syndactyly, clinodactyly and nail hypoplasia...
2016: Genetic Counseling
https://www.readbyqxmd.com/read/26852522/prenatal-onset-disseminated-renal-vein-thrombosis-extended-into-vena-cava-in-a-late-preterm-infant
#13
LETTER
S Aktas, C Turkyilmaz, S Unal, E Ergenekon, C Damar, O Boyunaga, E Sal, Z Kaya, Y Ozdemir, S Ezgu Bakkaloglu
No abstract text is available yet for this article.
2015: Genetic Counseling
https://www.readbyqxmd.com/read/26852521/waardenburg-syndrome-type-1-and-a-rare-finding-of-anal-atresia
#14
LETTER
S Tasdemir, H B Erdem, I Sahin, M Kara, A Tatar
No abstract text is available yet for this article.
2015: Genetic Counseling
https://www.readbyqxmd.com/read/26852520/a-novel-aspartylglucosaminuria-mutation-in-a-patient-with-co-existence-of-gaucher-disease
#15
LETTER
E Kiykim, T Zubarioglu, O Gorukmez, S Gunes, M S Cansever, A C Aktuglu Zeybek
No abstract text is available yet for this article.
2015: Genetic Counseling
https://www.readbyqxmd.com/read/26852519/a-newborn-with-oculocerebrocutaneous-syndrome-delleman-oorthuys-syndrome
#16
LETTER
M Saldir, A Polat, T Tunc, G Ozge, O Tehli, Y Kacar, A Kerim Yapici, S Sari, Y Bayram, Y Uysal
No abstract text is available yet for this article.
2015: Genetic Counseling
https://www.readbyqxmd.com/read/26852518/a-case-with-18q-deletion-syndrome-identified-with-b-cell-absence-and-congenital-heart-disease
#17
LETTER
O Güvenç, D Çimen, M B Kaplan, E Aslan, H Artaç, A Annagür
No abstract text is available yet for this article.
2015: Genetic Counseling
https://www.readbyqxmd.com/read/26852517/choanal-atresia-and-hirschsprung-s-disease-are-legitimate-traits-of-distal-trisomy-4q
#18
LETTER
I W Lurie
No abstract text is available yet for this article.
2015: Genetic Counseling
https://www.readbyqxmd.com/read/26852516/megalocornea-should-be-investigated-in-cases-with-hypotonia-and-mental-retardation-neuhauser-syndrome-an-easily-missed-diagnosis
#19
LETTER
T Atik, S Sahin Atik, O Çoğulu, F Özkinay
No abstract text is available yet for this article.
2015: Genetic Counseling
https://www.readbyqxmd.com/read/26852515/orofacial-findings-and-dental-management-of-williams-syndrome
#20
D Cogulu, F Hazan, F Cagirir Dindaroglu
Williams Syndrome is a microdeletion syndrome characterized by a number of developmental and physical abnormalities. The aim of the present study was to evaluate the oral abnormalities and dental management of patients with Williams Syndrome. Fifteen patients with Williams Syndrome aged between 3-20 years old were evaluated in this study. Oro-facial findings, dental plaque index and DMFT/dmft scores were recorded in each patient. Panoramic radiographs and extraoral, intraoral photographs were taken from all patients...
2015: Genetic Counseling
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