Results 71 to 80 of about 3,419 (204)

Chromosome Deletion of 14q32.33 Detected by Array Comparative Genomic Hybridization in a Patient with Features of Dubowitz Syndrome

Case Reports in Genetics, 2011
We report a 4-year-old girl of Mexican origins with a clinical diagnosis of Dubowitz syndrome who carries a de novo terminal deletion at the 14q32.33 locus identified by array comparative genomic hybridization (aCGH).
Diana C. Darcy, Scott Rosenthal, Robert J. Wallerstein   +2 more
doaj   +1 more source

Germ line control of female sex determination in zebrafish [PDF]

, 2008
A major transition during development of the gonad is commitment from an undifferentiated “bi-potential” state to ovary or testis fate. In mammals, the oogonia of the developing ovary are known to be important for folliculogenesis.
Nüsslein-Volhard, Christiane, Siegfried, Kellee R.   +1 more
core   +1 more source

Trisomy 26 in a Holstein calf with disorders of sex development

Animal Genetics, Volume 56, Issue 1, February 2025.
Abstract Hypospadias occurs sporadically in male livestock and is characterized by a non‐fused urethra during fetal development. In this study, perineal hypospadias, a bifid scrotum, penile hypoplasia, and bilateral abdominal cryptorchidism were diagnosed in a neonatal Holstein male calf.
Markus Freick, Joana G. P. Jacinto, Irene M. Häfliger, Jim Weber, Holger Behn, Ruben Schreiter, Cord Drögemüller   +6 more
wiley   +1 more source

Is Early Menopause a Different Entity From Premature Ovarian Insufficiency?

Clinical Endocrinology, Volume 102, Issue 1, Page 67-74, January 2025.
ABSTRACT Premature ovarian insufficiency (POI, defined as age at menopause < 40 years) affects 1%–3% of postmenopausal women. It is positively associated with an increased risk of diabetes mellitus, arterial hypertension, cardiovascular disease, osteoporosis, fractures, cognitive impairment, and depression.
Panagiotis Anagnostis, Irene Lambrinoudaki, Dimitrios G. Goulis   +2 more
wiley   +1 more source

Blepharophimosis Ptosis Epicanthus Inversus Syndrome (BPES) Type 1 in an Indian Family

Journal of the ASEAN Federation of Endocrine Societies, 2017
Blepharophimosis ptosis epicanthus inversus (BPES) is a relatively rare congenital disorder, which usually presents with classical eye manifestations. In some cases, it is associated with premature ovarian failure (POF).
Abhinav Kumar Gupta, Deepak Chand Gupta, Saqib Ahmad Khan, Syed Mohd Razi   +3 more
doaj  

Contribution of copy number variants (CNVs) to congenital, unexplained intellectual and developmental disabilities in Lebanese patients [PDF]

, 2015
International audienceBackground: Chromosomal microarray analysis (CMA) is currently the most widely adopted clinical test for patients with unexplained intellectual disability (ID), developmental delay (DD), and congenital anomalies.
A Caliebe, A Cooke, A Khan, A Rauch, A Verloes, Ali Fawaz, AM Haqq, André Mégarbané, BC Ballif, BWM Bon Van, C Rehder, CB Mankinen, Cecile Mignon-Ravix, DE Rooney, DF Callen, DJ McMullan, DT Miller, E Chouery, E Natt, E Natt, Eliane Chouery, GS Sagoo, J Carayol, JK Inlow, JL Merritt 2nd, Joelle Abou Ghoch, K Buysse, K Scior, K Shimojima, L Rodríguez-Revenga, Laurent Villard, M Azar, M Fujiwara, M Irving, M Poot, M Shoukier, N Roeleveld, Nabiha Salem, Nadine Jalkh, Nancy Choucair, ND Miller, Pierre Cacciagli, R Chitkara, RE Straub, S Edelhoff, SA Yatsenko, Sandra Corbani, Sandra El Sabbagh, T Barøy, T Yamamoto, Tony Ibrahim, V Mardo, Y Qiao, Y-S Fan, Y-T Chang, Z Stark   +55 more
core   +3 more sources

The Intersection of Genitopatellar Syndrome and Oral Health: A Case Report at Saudi Arabia

Case Reports in Dentistry, Volume 2025, Issue 1, 2025.
Genitopatellar syndrome (GPS) is a rare genetic disorder characterized by a spectrum of clinical manifestations including the absence of patellae, psychomotor retardation, congenital flexion deformity of the lower limbs, and genitourinary abnormalities.
Sara Alzanbaqi, Ahmed Ghibban, Zuhair S. Natto, Hannah Wesley   +3 more
wiley   +1 more source

Cytogenetics of Premature Ovarian Failure: An Investigation on 269 Affected Women [PDF]

, 2011
The importance of X chromosome in the aetiology of premature ovarian failure (POF) is well-known but in many cases POF still remains idiopathic. Chromosome aneuploidy increase is a physiological phenomenon related to aging, but the role of low-level sex
Angela Bentivegna, Anna Marozzi, Donatella Conconi, Elena Panzeri, Elena Sala, Emanuela Martinoli, Fabiana Saccheri, Francesca Crosti, Leda Dalprà, Marinella Volontè, Nicoletta Villa, Sara Lissoni, Serena Redaelli, Simona Baronchelli   +13 more
core   +3 more sources

Nablus mask‐like facial syndrome: Report of an atypical case with 8q21.3–q22.1 deletion

American Journal of Medical Genetics Part A, Volume 194, Issue 12, December 2024.
Abstract Nablus mask‐like facial syndrome (NMLFS) is a rare condition characterized by unique facial features, initially described in a 4‐year‐old boy from Nablus, Palestine. These features include expressionless facial appearance, tight facial skin, blepharophimosis, sparse eyebrows, and a flat nose.
A. Mitrakos, K. Kekou, F.‐N. Tilemis, M. Svingou, G. Papadimas, C. Sofocleous, J. Traeger‐Synodinos, M. Tzetis   +7 more
wiley   +1 more source

Inclusion of joint laxity, recurrent patellar dislocation, and short distal ulnae as a feature of Van Den Ende-Gupta syndrome: a case report

BMC Medical Genetics, 2018
Background Van Den Ende-Gupta Syndrome (VDEGS) is an extremely rare autosomal recessive syndrome with less than 20 reported families (approximately 40 patients) in the worldwide literature.
Mohammad M. Al-Qattan, Doaa F. Andejani, Nadia A. Sakati, Khushnooda Ramzan, Faiqa Imtiaz   +4 more
doaj   +1 more source