نتایج جستجو برای: microdeletion

تعداد نتایج: 1516  

Journal: :Indian Journal of Obstetrics and Gynecology Research 2023

Non-invasive prenatal test (NIPT) has become a popular screening worldwide for common trisomies. In addition, the can also sex chromosomal aneuploidies (SCAs) with similar sensitivity. recent years, scope of NIPT extended to screen pregnancies clinically significant microdeletions (MDs), rare autosomal aneuploidies, and subchromosomal abnormalities. The clinical utility beyond trisomies 21,18,1...

Journal: :Journal of medical genetics 2009
B W M van Bon H C Mefford B Menten D A Koolen A J Sharp W M Nillesen J W Innis T J L de Ravel C L Mercer M Fichera H Stewart L E Connell K Ounap K Lachlan B Castle N Van der Aa C van Ravenswaaij M A Nobrega C Serra-Juhé I Simonic N de Leeuw R Pfundt E M Bongers C Baker P Finnemore S Huang V K Maloney J A Crolla M van Kalmthout M Elia G Vandeweyer J P Fryns S Janssens N Foulds S Reitano K Smith S Parkel B Loeys C G Woods A Oostra F Speleman A C Pereira A Kurg L Willatt S J L Knight J R Vermeesch C Romano J C Barber G Mortier L A Pérez-Jurado F Kooy H G Brunner E E Eichler T Kleefstra B B A de Vries

BACKGROUND Recurrent 15q13.3 microdeletions were recently identified with identical proximal (BP4) and distal (BP5) breakpoints and associated with mild to moderate mental retardation and epilepsy. METHODS To assess further the clinical implications of this novel 15q13.3 microdeletion syndrome, 18 new probands with a deletion were molecularly and clinically characterised. In addition, we eval...

Journal: :Journal of medical genetics 2005
K Tatton-Brown J Douglas K Coleman G Baujat K Chandler A Clarke A Collins S Davies F Faravelli H Firth C Garrett H Hughes B Kerr J Liebelt W Reardon G B Schaefer M Splitt I K Temple D Waggoner D D Weaver L Wilson T Cole V Cormier-Daire A Irrthum N Rahman

BACKGROUND Sotos syndrome is characterised by learning difficulties, overgrowth, and a typical facial appearance. Microdeletions at 5q35.3, encompassing NSD1, are responsible for approximately 10% of non-Japanese cases of Sotos. In contrast, a recurrent approximately 2 Mb microdeletion has been reported as responsible for approximately 50% of Japanese cases of Sotos. METHODS We screened 471 c...

Journal: :Asian journal of andrology 2011
Qing Wu Guo-Wu Chen Tao-Fei Yan Hui Wang Yu-Ling Liu Zheng Li Shi-Wei Duan Fei Sun Yun Feng Hui-Juan Shi

Multiplex polymerase chain reaction (PCR) has been widely used to detect Y-chromosome microdeletions, which is one of the major causes of male infertility. Both the European Academy of Andrology (EAA) and the European Molecular Genetics Quality Network (EMQN) have recommended the use of sY84 and sY86 markers for the detection of azoospermia factor a (AZFa) microdeletion during DNA testing for m...

Journal: :Journal of Medical Case Reports 2007
Adriano R Tonelli Kalyan Kosuri Sainan Wei Davoren Chick

BACKGROUND The microdeletion of chromosome 22q11.2 is the most common human deletion syndrome. It typically presents early in life and is rarely considered in adult patients. As part of the manifestations of this condition, patients can have parathyroid glandular involvement ranging from hypocalcemic hypoparathyroidism to normocalcemia with normal parathryroid hormone levels. The first manifest...

Journal: :Journal of medical genetics 2005
S A Yatsenko S W Cheung D A Scott M J M Nowaczyk M Tarnopolsky S Naidu G Bibat A Patel J G Leroy F Scaglia P Stankiewicz J R Lupski

S ubmicroscopic deletion del(9)(q34.3) is a rare constitutional microdeletion syndrome involving the gene-rich subtelomeric region of the long arm of chromosome 9, with about 30 cases reported. Visible constitutional 9q34 deletions are extremely rare, with only a few cases described. 10 12 The low prevalence of large terminal deletions at the 9q34 chromosome region in liveborns is thought to re...

2005
S A Yatsenko S W Cheung D A Scott M J M Nowaczyk M Tarnopolsky S Naidu G Bibat A Patel J G Leroy F Scaglia P Stankiewicz J R Lupski

S ubmicroscopic deletion del(9)(q34.3) is a rare constitutional microdeletion syndrome involving the gene-rich subtelomeric region of the long arm of chromosome 9, with about 30 cases reported. Visible constitutional 9q34 deletions are extremely rare, with only a few cases described. 10 12 The low prevalence of large terminal deletions at the 9q34 chromosome region in liveborns is thought to re...

Journal: :Hong Kong medical journal = Xianggang yi xue za zhi 2009
Paulina P Y Ng Mary H Y Tang Elizabeth T Lau Lucy K L Ng Ernest H Y Ng P C Tam William S B Yeung P C Ho

OBJECTIVE To report the type and frequency of chromosomal anomalies and Y-microdeletions among Hong Kong Chinese subfertile men with sperm concentrations lower than 5 million/mL. DESIGN. Retrospective study. SETTING A reproductive centre in Hong Kong. PARTICIPANTS A total of 295 Chinese subfertile men who underwent both karyotyping and Y-microdeletion studies from 2000 to 2007 were categori...

Journal: :Missouri dental journal 1984
R T Couper J J Couper

Prader-Willi syndrome is a multi system disorder characterized by neonatal hypotonia, later obesity, hyperphagia and mental retardation. It occurs sporadically, either as a result of microdeletion of chromosome 15p (70%) or as a result of maternal disomy of chromosome 15 (30%). The major problems encountered by parents are those of hyperphagia, food-seeking and obesity, and conduct disorder, pa...

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