Chromosomal Microarray Testing in 42 Korean Patients with Unexplained Developmental Delay, Intellectual Disability, Autism Spectrum Disorders, and Multiple Congenital Anomalies by Sun Ho Lee, Wung Joo Song

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Intellectual Disability and Blended Phenotypes: Insights from a Centre in North India by Inusha Panigrahi, Sudha Rao, Shalu Verma Kumar, Divya Kumari, Parminder Kaur

“…Most of the variants identified were de novo variants and consistent with sporadic occurrence, and blended phenotypes were identified. Appropriate genetic counseling was performed and options for prenatal diagnosis were discussed. …”
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Novel Genetic Findings in a Chinese Family with Axenfeld-Rieger Syndrome by Kuanshu Li, Liu Yang, Ying Liu, Ding Lin

“…We found novel gene mutations in a Chinese family with ARS, which provides us with a better understanding of the gene mutation spectrum of ARS and the assistance for the genetic counseling and gene-specific therapy in the future.…”
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A Case of Thanatophoric Dysplasia Type I with Fetal Hydrops in the First Trimester by Giannina Calongos, Masateru Hori, Mai Ogino, Hideaki Sawai

“…With the strong suspicion of a fetal skeletal disease, specifically thanatophoric dysplasia (TD), and after extensive genetic counseling, termination of the pregnancy was performed per the parents’ wishes with mechanical cervical dilation and gemeprost (PGE1) administration. …”
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Unclassifiable short-rib thoracic dysplasia diagnosed using targeted gene panel sequencing by Erika Nakajima, Yuko Yokohama, Saori Sugiyama, Mio Taketazu, Kenrokuro Mitsube, Takahiro Yamada, Anna Hammarsjö, Giedre Grigelioniene, Gen Nishimura, Yoshio Makita

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Atrial Fibrillation and Long QT Syndrome Presenting in a 12-Year-Old Girl by Jonathan W. Knoche, Kate M. Orland, Craig T. January, Kathleen R. Maginot

“…Due to the potential for increased morbidity and mortality, young patients who present with AF and a family history suggestive of inherited arrhythmias should trigger further investigation for LQTS and subsequent familial genetic counseling.…”
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Macular Hole of the Left Eye in a 41-year-old Patient with Retinitis pigmentosa. A Case Report by Bożena Kmak, Tomasz Siewierski, Anna Szot, Sebastian Sirek

“…Retinitis pigmentosa is a genetic disorder, therefore genetic counseling and screening of family members for retinitis pigmentosa is important. …”
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Baller-Gerold Syndrome. About a Clinical Case and Review of the Literature by Anolys Narciso Piña Rodríguez, Osiris Intento García, Sady Montes Amador

“…Diagnosis is based on clinical criteria and due to the high number of differential diagnoses, finding a mutation in the gene can help to specify the diagnostic spectrum, genetic counseling and treatment. Around 30 cases have been described in the literature, although it is known that it has occurred in less than 200,000 people in the world, being considered a rare clinical condition. …”
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Transvestism Recognized in Ehlers-Danlos Syndrome: Report of Two Cases by Hiroki Ishiguro, Naomi Honobe, Takefumi Suzuki, Mariko Tamai, Takaya Nakane

“…We report on detailed psychosocial data to further discuss the medical management and genetic counseling of such infrequent but challenging conditions. …”
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Novel Implications in Molecular Diagnosis of Lynch Syndrome by Raffaella Liccardo, Marina De Rosa, Paola Izzo, Francesca Duraturo

“…However, the mutation detection analysis of these genes does not always provide informative results for genetic counseling of LS patients. Very often, the molecular analysis reveals the presence of variants of unknown significance (VUSs) whose interpretation is not easy and requires the combination of different analytical strategies to get a proper assessment of their pathogenicity. …”
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Iniencephaly and Holoprosencephaly: Report of a Rare Association by Aytekin Tokmak, Hakan Timur, Korkut Dağlar, Özgür Kara

“…The family declined an autopsy and genetic counseling. In this case, genetics and environmental causes, including lower socioeconomic status and lack of folic acid supplementation, may be risk factors for the current disorder. …”
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The Importance of Detailed Audio-Vestibular Monitoring in Familial Non-Syndromic Hearing Losses: A Longitudinal Study by Burak Kabiş, Nuriye Yıldırım Gökay

“…The findings demonstrated the importance of follow-up and genetic counseling in terms of progressive hearing loss, even when newborns undergo hearing screening.…”
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Diagnosis of Prenatal-Onset Achondrogenesis Type II by a Multidisciplinary Assessment: A Retrospective Study of 2 Cases by Wenbo Wang, Qichang Wu, Li Sun, Xiaohong Zhong, Yasong Xu, Xiaojian Xie, Zhiying Su

“…Our findings emphasize the importance of a multidisciplinary assessment for the definitive diagnosis of achondrogenesis type II, which is paramount for proper genetic counseling.…”
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Detection of gene mutation in a case of Nagashima-type palmoplantar keratoderma by CAO Yuanyuan, YUAN Zhaojun, JIN Chuanyang, WANG Tianzi, LIAO Xiaojie, LIU Hong

“…The diagnosis and disease type of the patient are clarified, and genetic counseling is provided according to the patient′s request.…”
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Family Aggregation and Risk Factors for Breast Cancer in Affected Individuals by Julio Armando Sánchez Delgado, Nailé Edita Sánchez Lara

“…The risk factors for smoking (OR = 4.1), ingestion of the contraceptive pill (OR = 3.1), and alcohol (OR = 2.8) had the highest association with the disease. A genetic counseling strategy was proposed based on the results. …”
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Autosomal Recessive Non-Syndromic Hearing Loss: A Case Report with a Novel TRIOBP Gene Variant by Shweta Jangam, Manju Kurup, Preeti Arora, Shruti Jawale, Prashant Duraphe, Sanjay Gupte

“…Accordingly, the results of this study may be important for genetic counseling. …”
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Perinatal Management for a Pregnant Woman with an MYH9 Disorder by Yuka Yamashita, Rei Matsuura, Shinji Kunishima, Yoshie Oikawa, Hirotsugu Ariizumi, Shoko Hamada, Nahoko Shirato, Ryu Matsuoka, Kohichi Ogawa, Akihiko Sekizawa

“…A peripheral blood smear with an immunofluorescence analysis is the established method of diagnosing MYH9 disorders. We provided genetic counseling, as required, which included apprising the woman of the inheritance pattern, the importance of a genetic analysis, and the potential delivery risks for the patient and her offspring. …”
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Congenital anomalies of kidney and urinary tract (CAKUT) and associated extra-renal anomalies in fetal autopsies by Esra Çobankent Aytekin, Cem Y. Sanhal, Havva Serap Toru

“…This information is helpful for the mother’s future pregnancy management and parental genetic counseling.…”
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A Newborn with Cleft Palate Associated with PTEN Hamartoma Tumor Syndrome by Ulf Nestler, Daniel Gräfe, Vincent Strehlow, Robin-Tobias Jauss, Andreas Merkenschlager, Annika Schönfeld, Florian Wilhelmy

“…The recent pediatric literature is reviewed to assess which clinical symptoms should raise suspicion of PHTS and may then lead to early genetic counseling. <b>Conclusion</b>: Since the amount of prospective data remains limited, and the estimation of tumor risk during infancy and adulthood is very difficult, we advocate for early and broad genetic testing in suspected cases, to gain more insights into this rare disease and allow for better counseling for patients and their families.…”
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Detection of Hemoglobinopathies in Cuban Pregnant Women from the Program: Sickle Cell Anemias in Cuba by Yadira Valdés Fraser, Tatiana Acosta Sánchez, Jacqueline Pérez Rodríguez, Beatriz Suárez Besil, Sandra Bárbara Correa Jiménez

“…The program provides genetic counseling, molecular prenatal diagnosis and selective interruptions of affected fetuses, at the re-quest of couples. …”
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