Simple, rapid and inexpensive quantitative fluorescent PCR method for detection of microdeletion and microduplication syndromes. [PDF]
PLoS ONE, 2013 Because of economic limitations, the cost-effective diagnosis of patients affected with rare microdeletion or microduplication syndromes is a challenge in developing countries.
Martin Stofanko +5 more
doaj +2 more sources
Taiwanese Journal of Obstetrics & Gynecology, 2020 Objective: We present the prenatal diagnosis of a class II 1q21.1 microdeletion in monozygotic (MZ) twins with discordant phenotypes. Case report: A monochorionic diamniotic twin pair presented with discordant ultrasound anomalies; twin A had ...
Shan-shan Shi +4 more
doaj +2 more sources
22q11.2 microdeletion syndrome as a multidisciplinary problem [PDF]
Pediatria i Medycyna Rodzinna, 2017 22q11.2 microdeletion syndrome, known also under the name of DiGeorge syndrome, is the most frequent deletion in the human chromosome. Its prevalence is estimated at about 1:9,700 newborns, but this is probably an underestimation. In over 90% of cases,
Marta Skoczyńska, Izabela Lehman
doaj +2 more sources
Prevalence of 22q11.2 microdeletion in 146 patients with cardiac malformation in a referral hospital of North India [PDF]
BMC Medical Genetics, 2010 Background The 22q11.2 microdeletion syndrome is a common condition that is associated with cardiac as well as extra-cardiac manifestations. Its prevalence and manifestations from north India has not been reported.
Chaudhary Isha +3 more
doaj +3 more sources
Chromosome 22q11.2 Microdeletion Syndrome
Neonatal Network, 2011 Chromosome 22q11.2 microdeletion syndrome is the most common microdeletion syndrome in humans. It involves the loss of genetic material on the short arm of one of the chromosome 22 alleles. Until advanced testing was available, this syndrome was known by various names including DiGeorge syndrome and velo-cardio-facial syndrome.
Marion G. Molesky
openaire +3 more sources
Frequency of 22q11.2 microdeletion in children with congenital heart defects in western poland [PDF]
BMC Pediatrics, 2010 Background The 22q11.2 microdeletion syndrome (22q11.2 deletion syndrome -22q11.2DS) refers to congenital abnormalities, including primarily heart defects and facial dysmorphy, thymic hypoplasia, cleft palate and hypocalcaemia.
Zeyland Joanna +13 more
doaj +3 more sources
Early-Onset Parkinson's Disease with 22q11.2 Microdeletion and Pathogenic GBA1 Variant. [PDF]
Mov Disord Clin PractMovement Disorders Clinical Practice, EarlyView.
Reyes NGD +8 more
europepmc +2 more sources
Expanding Genotype/Phenotype Correlation in 2p11.2-p12 Microdeletion Syndrome. [PDF]
, 2023 Chromosomal abnormalities on the short arm of chromosome 2 in the region p11.2 have been associated with developmental delay, intellectual disability, facial anomalies, abnormal ears, skeletal and genital malformations.
Claudine Rieubland +11 more
core +2 more sources
Detection rate of 22q11.2 microdeletion using strict diagnostic criteria [PDF]
, 2023 Background/Objectives: 22q11.2 microdeletion, detected in patients with 22q11.2 Deletion Syndrome (22q11.2DS), is the most common microdeletion syndrome in humans.
Drakulić, Danijela +5 more
core +1 more source
Prenatal Diagnosis of Recurrent Fetal Intracranial Hemorrhage and a Maternally Inherited COL4A1 Variant of Uncertain Significance: A Case Report With Maternal Reverse Phenotyping. [PDF]
Clin Case RepABSTRACT A 33‐year‐old woman with two consecutive pregnancies affected by fetal left periventricular germinal matrix hemorrhage (Grade IV) and progressive ventriculomegaly underwent trio whole‐exome sequencing. A heterozygous COL4A1 c.4249G>C (p.Gly1417Arg) variant, classified as a variant of uncertain significance, was identified in the fetus of the ...
Shi W +9 more
europepmc +2 more sources