Results 41 to 50 of about 9,985 (213)

Prenatal diagnosis of trisomy 6q25.3-qter and monosomy 10q26.12-qter by array CGH in a fetus with an apparently normal karyotype. [PDF]

, 2014
We present the prenatal case of a 12.5-Mb duplication involving 6q25-qter and a 12.2-Mb deletion encompassing 10q26-qter diagnosed by aCGH, while conventional karyotype showed normal results.
Marinescu, Ponnila S, Parks, W Tony, Rajkovic, Aleksandar, Saller, Devereux N, Yatsenko, Svetlana A   +4 more
core   +1 more source

Co‐Occurring Non‐Cardiac Congenital Anomalies Among Cases With Congenital Heart Defects

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cases with congenital heart defects (CHD) often have other associated anomalies. The aim of this investigation was to assess the prevalence and the types of co‐occurring anomalies in CHD in a well‐defined population. The anomalies co‐occurring with CHD were ascertained in all live births, stillbirths and terminations of pregnancy for fetal ...
Claude Stoll, Yves Alembik, Marie‐Paule Roth   +2 more
wiley   +1 more source

A Rare Case of Partial Anomalous Pulmonary Venous Return (Scimitar Syndrome) with Vaginal Agenesis and a History of Infantile Imperforated Anus

Case Reports in Clinical Practice
Scimitar syndrome is a rare congenital cardiac anomaly characterized by abnormal drainage of the right pulmonary veins into the inferior vena cava (IVC).
Maziar Karamnejad, Mahdis Nazari, Ehsan Parvas, Reza Elahi, Amir Ghaffari Jolfayi, Kyomars Abbasi   +5 more
doaj   +1 more source

Postoperative Megarectum in an Adult Patient with Imperforate Anus and Rectourethral Fistula

Case Reports in Gastrointestinal Medicine, 2015
This report presents a surgical case of postoperative megarectum in an adult patient with imperforate anus/anorectal malformations. A 71-year-old Japanese male presented with a mass in the lower abdomen which was 15 × 12 × 8 cm in diameter, edema in the ...
Yoshifumi Nakayama, Toshihito Uehara, Masaki Akiyama, Noritaka Minagawa, Takayuki Torigoe, Naohiro Fujimoto   +5 more
doaj   +1 more source

Laparoscopic removal of mullerian duct remnants in boys [PDF]

, 2004
: Purpose: Mullerian duct remnants (MDRs) are present in a male pseudohermaphroditic form characterized by failure of the mullerian duct to regress due to insufficient production or peripheral action of mullerian inhibiting substance.
Aquino, A., Cimador, M., Domini, M., Libri, M., Lima, M., Pelusi, G., Ruggeri, G.   +6 more
core   +1 more source

Yield of Whole Genome Sequencing for Pathogenic Single Nucleotide Variants in Congenital Heart Disease: A Systematic Review and Meta‐Analysis

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective This systematic review and meta‐analysis aimed to assess the diagnostic yield of pathogenic or likely pathogenic (P/LP) single nucleotide variants (SNVs) using whole genome sequencing (WGS) in congenital heart disease (CHD). Methods A systematic search of three databases (2000–2024) was conducted, and two reviewers independently ...
Hiba J. Mustafa, Parisa Najjariasl, Faezeh Aghajani, Enaja V. Sambatur, Andrew Rodenbarger, Stephanie Guseh, Amy E. Roberts, Alireza A. Shamshirsaz   +7 more
wiley   +1 more source

Townes-Brocks syndrome with overlapping features of hemifacial microsomia

Journal of Orofacial Sciences, 2013
Townes-Brocks syndrome (TBS) is an autosomal dominant disorder with multiple malformations and variable expression. Major findings include external ear anomalies, hearing loss, limb deformity, imperforate anus, and renal malformations.
Yadavalli Guruprasad, Dinesh Singh Chauhan   +1 more
doaj   +1 more source

Homozygous Loss‐of‐Function Variant in SLC20A1 Coding for Ubiquitous Phosphate Transporter PiT1 Is Associated With Multiple Developmental Abnormalities

Clinical Genetics, EarlyView.
Biallelic SLC20A1 loss‐of‐function variant causes a previously unrecognized multisystem developmental disorder. We report the first homozygous case presenting with tetralogy of Fallot, renal agenesis, polydactyly, and growth impairment. Transcriptome analysis of patient‐derived fibroblasts suggests significant dysregulation of pathways critical for ...
Eugénie Koumakis, Céline Huber, Wendy Chung, Christine Leroy, Pauline Parisot, Regis Gaudin, Mohamad Zaidan, Valérie Cormier‐Daire, Gérard Friedlander, Yoel Hirsch   +9 more
wiley   +1 more source

Medico-legal evaluation of the gynaecological consultation in cases of annulment presenting to the Ecclesiastical Tribunal of the Roman Curia in Malta [PDF]

, 2013
The Ecclesiastical Tribune of the Roman Curia in Malta appoints gynaecologists as medical experts to certain cases seeking annulment. These cases often essentially revolve around the confirmation or exclusion of virginity but may involve requests for ...
Buttigieg, Gabrielle, Buttigieg, George Gregory   +1 more
core  

Causes and assessment of faecal incontinence [PDF]

, 1999
Faecal incontinence remains a taboo subject and patients frequently conceal their symptoms, because of fear and embarrassment. Sensitive and appropriate assessment will encourage people to seek advice and treatment if required. This article discusses the
Chelvanayagam, Sonya
core   +1 more source