Posted by: patoconnor on: September 25, 2009
Abnormal growth in noonan syndrome: the challenge of optimal therapy.
Savage MO, Padidela R, Kirk JM, Malaquias AC, Jorge AA.
Department of Endocrinology, Barts and the London School of Medicine and Dentistry, London, UK. m.o.savage@qmul.ac.uk
Noonan syndrome (NS) is a phenotypically heterogeneous condition frequently associated with short stature. Genetic investigations have identified mutations in several genes, e.g.PTPN11, KRAS, [...]
Posted by: patoconnor on: September 25, 2009
Successful fertility treatment for Klinefelter’s syndrome.
J Urol. 2009 Sep
Ramasamy R, Ricci JA, Palermo GD, Gosden LV, Rosenwaks Z, Schlegel PN.
Center for Reproductive Medicine and Infertility, New York-Presbyterian Hospital, Weill Cornell Medical College, New York, New York.
PURPOSE: We examined preoperative factors that could predict successful microdissection testicular sperm extraction in men with azoospermia and nonmosaic Klinefelter’s [...]
Posted by: patoconnor on: September 25, 2009
Herron: Down syndrome an oft misunderstood disorder
By Mason Herron / Columnist
published: Tue, 15 Sep, 2009
When we reflect upon the progress humanity has made, we often reach two conclusions: praise for the progress and the heroes that brought it and the realization of how much more progress must be made. Historically speaking, there are a plethora [...]
Posted by: patoconnor on: September 17, 2009
Molecular genetic analysis of Down syndrome.
Hum Genet. 2009 Jul
Patterson D.
Eleanor Roosevelt Institute, University of Denver, 2101 E. Wesley Avenue, Denver, CO 80208-6600, USA. dpatter2@du.edu
Down syndrome (DS) is caused by trisomy of all or part of human chromosome 21 (HSA21) and is the most common genetic cause of significant intellectual disability. In addition to intellectual disability, [...]
Posted by: patoconnor on: September 17, 2009
Triple-marker prenatal screening program for chromosomal defects.
Obstet Gynecol. 2009 Jul
Kazerouni NN, Currier B, Malm L, Riggle S, Hodgkinson C, Smith S, Tempelis C, Lorey F, Davis A, Jelliffe-Pawlowski L, Walton-Haynes L, Roberson M.
Genetic Disease Screening Program, California Department of Public Health, Richmond, California, USA. neely.kazerouni@cdph.ca.gov
OBJECTIVE: To examine screening performance of California’s triple-marker screening program, using [...]
Posted by: patoconnor on: September 17, 2009
Language development impairment and trisomy 8 mosaicism
Ptok M, Morlot S.
Klinik und Poliklinik für Phoniatrie und Pädaudiologie, Medizinische Hochschule Hannover, Hannover, Germany. Ptok.Martin@mh-hannover.de
Constitutional trisomy 8 mosaicism (46,XX/47,XX,+8 or 46,XY/47,XY,+8) is characterized by trisomic distribution of chromosomes in some but not all cells of the body. The full condition presents with physical stigmata, skeletal abnormalities and a [...]
