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Microdeletion 3q13.33-3q21.2: A Rare Cause of Neurodevelopmental Disorder.
J Pediatr Genet
December 2024
Department of Obstetrics and Gynecology, Sixth Affiliated Hospital of Sun Yat-Sen University, Guangzhou, China.
Chromosomal sub-microscopic imbalances, such as microdeletions and microduplications, are associated with multiple genetic disorders. Here, we illustrate microdeletion 3q13.33q21.
View Article and Find Full Text PDFRole of genetic variations and protein expression of β-Microsemino protein in intrauterine insemination outcome of unexplained infertile men: A case-control study.
Int J Reprod Biomed
June 2024
Department of Genetics, Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, ACECR, Tehran, Iran.
Background: Intrauterine insemination (IUI) is often the first-line treatment for unexplained infertility. -Microsemino protein (MSMB) is an abundant protein in seminal plasma that has an inhibitory effect on spontaneous acrosome reaction.
Objective: The present study aimed to evaluate gene variations and protein expression on IUI success rate in unexplained infertile men.
Breaking new ground: Exploring chromosomal rearrangements in 1p36 microdeletion.
Int J Health Sci (Qassim)
January 2024
Department of Basic Sciences, College of Medicine, King Saud Bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia.
Chromosomal structural variations (SVs) are linked to a wide range of phenotypes and arise due to disruptions during DNA replication, which can affect gene function within the SV regions. This case report details a patient diagnosed with neurodevelopmental delay. Detailed investigation through array comparative genomic hybridization revealed two pathogenic SVs on chromosome 1, which align with a 1p36 microdeletion, and a microduplication at 2p35.
View Article and Find Full Text PDFConcurrent of compound heterozygous variant of a novel in-frame deletion and the common hypomorphic haplotype in TBX6 and inherited 17q12 microdeletion in a fetus.
BMC Pregnancy Childbirth
July 2024
Department of Reproductive Genetics, International Peace Maternity and Child Health Hospital, School of Medicine, Shanghai Jiao Tong University, No.910, Hengshan Road, Shanghai, 200030, China.
Background: TBX6, a member of the T-box gene family, encodes the transcription factor box 6 that is critical for somite segmentation in vertebrates. It is known that the compound heterozygosity of disruptive variants in trans with a common hypomorphic risk haplotype (T-C-A) in the TBX6 gene contribute to 10% of congenital scoliosis (CS) cases. The deletion of chromosome 17q12 is a rare cytogenetic abnormality, which often leads to renal cysts and diabetes mellitus.
View Article and Find Full Text PDFCase report: Development of central precocious puberty in a girl with late-diagnosed simple virilizing congenital adrenal hyperplasia complicated with Williams syndrome.
Front Endocrinol (Lausanne)
May 2024
Department of Pediatrics, Inha University College of Medicine, Inha University Hospital, Incheon, Republic of Korea.
Congenital adrenal hyperplasia (CAH) and Williams Syndrome (WS; MIM # 194050) are distinct genetic conditions characterized by unique clinical features. 21-Hydroxylase deficiency (21-OHD; MIM #201910), the most common form of CAH, arises from mutations in the gene, resulting in virilization of the external genitalia in affected females, early puberty in males, and short stature. Williams syndrome, caused by a microdeletion of 7q11.
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