Prenatal Diagnosis of Double Autosomal Mosaicism (47,XX,+8/47,XX,+14): Phenotype and Molecular Cytogenetic Analysis on Different Tissues

Matheson, Jolie K.B.; Matheson, Victor A.; McCorquodale, Maureen M.; Santolaya-Forgas, Joaquín

doi:10.1159/000066380

Cited by 13 publications

(10 citation statements)

References 11 publications

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“…Gallbladder agenesis has been reported to be associated with many other gastrointestinal, skeletal, cardiovascular and genito‐urinary malformations, such as ventricular septal defect, imperforate anus, duodenal atresia, malrotation of the gut, pancreas divisum, hypoplasia of the right hepatic lobe, duplication cysts of the hepatic flexure, renal agenesis, undescended testes, and syndactyly 32–37 . Associations with Steinfeld, lethal (Hisama), Smith–Lemli–Opitz, Gilbert's syndromes, double autosomal mosaicism, and pentalogy of Cantrell, have been also reported 15,38–42 . In contrast, in the majority of adult cases, the patients are asymptomatic or have biliary symptoms with or without evidence of an associated choledocholithiasis or oddian sphincter stenosis 1,22,33 .…”

Section: Clinical Presentationsmentioning

confidence: 99%

Agenesis of the gallbladder: Difficulties in management

Bani-Hani

2005

J of Gastro and Hepatol

102

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Gallbladder agenesis is a rare congenital biliary anomaly that may be associated with other biliary and extrabiliary congenital anomalies. Awareness of this entity by clinicians and radiologists is essential because many of these patients present with biliary symptoms and have unnecessary operations. In the present article, the relative epidemiological, etiological (embryology and development), pathophysiological, diagnostic tools and pitfalls and management aspects of this rare anatomic anomaly are briefly discussed through review of the literature. Particular reference to the difficulty in preoperative diagnosis is highlighted. The importance of the possibility of preoperative diagnosis to avoid unnecessary surgery is stressed.

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Section: Clinical Presentationsmentioning

confidence: 99%

Agenesis of the gallbladder: Difficulties in management

Bani-Hani

2005

J of Gastro and Hepatol

102

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“…Relatedly, a female fetus with absent gallbladder and other multiple congenital anomalies was found to have partial trisomy 8 chromosome on karyotype analysis via amniocentesis. 8 The region of q22.2-q24.3 encompasses 47 morbid genes (https://decipher.sanger.ac.uk/browser) and no gene variants related to absent gallbladder have been found. Among these, TAF2(OMIM: 604912), KCNK9(OMIM: 605847), TRAPPC9(OMIM: 611966), and RECQL4 (OMIM: 603780) have been linked to the intellectual disability, while other genes such as SAMD12(OMIM: 618073), KCNQ3(OMIM: 602232) and GPAA1(OMIM: 603048)have been associated with epilepsy.…”

Section: Discussionmentioning

confidence: 99%

Fetus of 8q22.2q24.3 duplication and 13q33.2q34 deletion derived from a maternal balanced translocation

Liu

Xie

Zhang

et al. 2020

J of Obstet and Gynaecol

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The concomitant occurrence of 8q duplication and 13q deletion is the first to be detected by noninvasive prenatal testing (NIPT) to date. Through case analysis, we could provide a clinical approach to pregnant women with chromosomal abnormalities revealed by NIPT. The combination of traditional karyotype and copy number variation sequencing (CNV‐seq) could better locate the abnormal chromosomal region and further identify the source of fetal chromosomal abnormalities. Simultaneously, we evaluated the fetal morphology by ultrasound examination. The karyotype of the fetus was 46,XY,der(13)t(8;13)(q22;q32)mat and CNV‐seq results showed that there was an approximately 45.26‐Mb duplication in 8q22.2‐q24.3 (101040001–146 300 000) and an approximately 9.54‐Mb deletion in 13q33.2‐q34 (105560001–115 100 000). Prenatal ultrasound revealed the fetal structural abnormalities presented with hypoplasia of the cerebellar vermis, a flat nose, echogenic bowel and absent gallbladder. Herein, we consider that combination detection of traditional karyotyping, CNV‐seq and ultrasonography provides a valuable method for pregnant women with abnormal NIPT.

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“…Common features of this trisomy 8 “mosaicism” syndrome include mild‐to‐moderate mental retardation, strabismus, osseous and soft tissue abnormalities, lowset and/or malformed ears, broad bulbous nose, palate deformity, various types of congenital cardiovascular disorders, hydronephrosis, cryptorchidism and characteristic dermatoglyphics. Phenotype, due to the mosaic condition, ranges from normal to variable expression of congenital anomalies [Fineman et al, 1975; Matheson et al, 2003; Le Caignec et al, 2004].…”

Section: To the Editormentioning

confidence: 99%

Biodegradable fumarate‐based drug‐delivery systems for ophthalmic applications

Hacker

Haesslein

Ueda

et al. 2008

J Biomedical Materials Res

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The function of a photocrosslinked poly(propylene fumarate) (PPF)/poly(N-vinyl pyrrolidone) (PVP) matrix for the sustained release of three ophthalmic model drugs, acetazolamide (AZ), dichlorphenamide (DP), and timolol maleate (TM), was investigated. The drugs differ in molecular weight and degree of dissociation in aqueous environments; both are parameters that significantly influence drug diffusivity. AZ, DP, and TM-loaded cylindrical rods (10 mm length, 0.6 mm diameter) were fabricated by photoinduced cross-copolymerization of PPF and N-vinyl pyrrolidone (NVP) in molds. The released amounts of AZ, DP, TM, and NVP were determined by high-performance liquid chromatography (HPLC). The effects of drug properties and loading on the release kinetics were investigated. The in vitro release of AZ, DP, and TM was well sustained from the polymer matrices over a period of approximately 210, 270, and 250 days, respectively. The release kinetics correlated with the HPLC retention profiles of the different drugs. Following a small initial burst release (<10%), a dual modality release controlled by diffusion and bulk erosion was found for all drugs. Drug release rates of up to 4 microg/day were reached. Matrix drug loading generally affected the extent of the burst release, release kinetics, as well as the matrix water content and matrix degradation that were determined gravimetrically. Microcomputed tomography was used to image structural and dimensional changes of the devices. A preliminary rabbit implantation study revealed promising ocular biocompatibility of drug-free PPF/PVP matrices. All results indicate the potential of photocrosslinked PPF-based matrices as polymeric carriers for long-term ophthalmic drug delivery.

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Prenatal Diagnosis of Double Autosomal Mosaicism (47,XX,+8/47,XX,+14): Phenotype and Molecular Cytogenetic Analysis on Different Tissues

Cited by 13 publications

References 11 publications

Agenesis of the gallbladder: Difficulties in management

Agenesis of the gallbladder: Difficulties in management

Fetus of 8q22.2q24.3 duplication and 13q33.2q34 deletion derived from a maternal balanced translocation

Biodegradable fumarate‐based drug‐delivery systems for ophthalmic applications

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