keyword
MENU ▼
Read by QxMD icon Read
search

4p deletion

keyword
https://www.readbyqxmd.com/read/29675261/growth-trajectory-and-pubertal-tempo-from-birth-till-final-height-in-a-girl-with-wolf-hirschhorn-syndrome
#1
Jia Xuan Siew, Fabian Yap
Growth anomaly is a prominent feature in Wolf-Hirschhorn syndrome (WHS), a rare congenital disorder caused by variable deletion of chromosome 4p. While growth charts have been developed for WHS patients 0-4 years of age and growth data available for Japanese WHS patients 0-17 years, information on pubertal growth and final height among WHS children remain lacking. Growth hormone (GH) therapy has been reported in two GH-sufficient children with WHS, allowing for pre-puberty catch up growth; however, pubertal growth and final height information was also unavailable...
2018: Endocrinology, Diabetes & Metabolism Case Reports
https://www.readbyqxmd.com/read/29626710/prenatal-diagnosis-of-wolf-hirschhorn-syndrome-ultrasonography-and-molecular-karyotyping-results
#2
Li Zhen, Shu-Shu Fan, Lv-Yin Huang, Min Pan, Jin Han, Xin Yang, Dong-Zhi Li
OBJECTIVE: To present the experience on prenatal diagnosis of Wolf-Hirschhorn syndrome (WHS) to further delineate the fetal presentation of this syndrome. STUDY DESIGN: This was a retrospective analysis of ten pregnancies with fetal WHS identified by chromosomal microarray (CMA). Clinical data were reviewed for these cases, including maternal demographics, indications for invasive testing, sonographic findings, CMA results and pregnancy outcomes. RESULTS: Three cases were diagnosed at the first trimester because of an increased NT or cystic hygroma...
March 31, 2018: European Journal of Obstetrics, Gynecology, and Reproductive Biology
https://www.readbyqxmd.com/read/29390495/a-boy-with-13-34-mb-interstitial-deletion-of-chromosome-4p15-a-new-case-report-and-review-of-the-literature
#3
REVIEW
Anca Florentina Mitroi, Mariana Aschie, Adriana Apostol, Costel Brinzan, Georgeta Cozaru, Adrian Nelutu Mitroi
RATIONALE: To date, >40 cases have been described with interstitial deletions involving the 4p15 region. PATIENT CONCERNS AND DIAGNOSIS: We report a case of a 3-year-old boy with an interstitial de novo deletion of approximately 13.34 Mb in 4p15.1-15.31 having mild developmental delay and multiple minor congenital abnormalities. LESSONS: This case presents a clinical manifestation that is similar but not identical to other reported cases...
December 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29296183/identification-of-the-genetic-and-clinical-characteristics-of-neuroblastomas-using-genome-wide-analysis
#4
Kumiko Uryu, Riki Nishimura, Keisuke Kataoka, Yusuke Sato, Atsuko Nakazawa, Hiromichi Suzuki, Kenichi Yoshida, Masafumi Seki, Mitsuteru Hiwatari, Tomoya Isobe, Yuichi Shiraishi, Kenichi Chiba, Hiroko Tanaka, Satoru Miyano, Katsuyoshi Koh, Ryoji Hanada, Akira Oka, Yasuhide Hayashi, Miki Ohira, Takehiko Kamijo, Hiroki Nagase, Tetsuya Takimoto, Tatsuro Tajiri, Akira Nakagawara, Seishi Ogawa, Junko Takita
To provide better insight into the genetic signatures of neuroblastomas, we analyzed 500 neuroblastomas (included specimens from JNBSG) using targeted-deep sequencing for 10 neuroblastoma-related genes and SNP arrays analysis. ALK expression was evaluated using immunohistochemical analysis in 259 samples. Based on genetic alterations, the following 6 subgroups were identified: groups A ( ALK abnormalities), B (other gene mutations), C ( MYCN amplification), D (11q loss of heterozygosity [LOH]), E (at least 1 copy number variants), and F (no genetic changes)...
December 8, 2017: Oncotarget
https://www.readbyqxmd.com/read/29204299/diabetes-mellitus-secondary-to-acute-pancreatitis-in-a-child-with-wolf-hirschhorn-syndrome
#5
Asma Deeb
Wolf-Hirschhorn Syndrome (WHS) is a rare genetic disease caused by deletion in the short arm of chromosome 4. It is characterized by typical fascial features and a varying degree of intellectual disabilities and multiple systemic involvement. Epidemiological studies confirmed the association of acute pancreatitis with the development of diabetes. However, this association has not been reported in WHS. We report an 18-year-old girl with WHS who presented acutely with nonketotic Hyperglycemic Hyperosmolar Status (HHS) in association with severe acute pancreatitis...
2017: Case Reports in Endocrinology
https://www.readbyqxmd.com/read/29090255/anesthetic-considerations-for-a-pediatric-patient-with-wolf-hirschhorn-syndrome-a-case-report
#6
Masanori Tsukamoto, Hitoshi Yamanaka, Takeshi Yokoyama
Wolf-Hirschhorn syndrome is a rare hereditary disease that results from a 4p chromosome deletion. Patients with this syndrome are characterized by craniofacial dysgenesis, seizures, growth delay, intellectual disability, and congenital heart disease. Although several cases have been reported, very little information is available on anesthetic management for patients with Wolf-Hirschhorn syndrome. We encountered a case requiring anesthetic management for a 2-year-old girl with Wolf-Hirschhorn syndrome. The selection of an appropriately sized tracheal tube and maintaining intraoperatively stable hemodynamics might be critical problems for anesthetic management...
September 2017: Journal of Dental Anesthesia and Pain Medicine
https://www.readbyqxmd.com/read/28901405/genotype-phenotype-analysis-in-a-male-patient-with-partial-trisomy-4p-and-monosomy-20q-due-to-maternal-reciprocal-translocation%C3%A2-4-20-a-case-report
#7
Dong Wu, Hui Zhang, Qiaofang Hou, Hongdan Wang, Tao Wang, Shixiu Liao
Translocations are the most frequent structural aberration in the human genome. Carriers of balanced chromosome rearrangement exhibit an increased risk of abortion and/or a chromosomally‑unbalanced child. The present study reported a clinical and cytogenetic analysis of a child who exhibited typical trisomy 4p and monosomy 20q features, including intellectual disability, delayed speech, tall stature, seizures and facial dysmorphism. The karyotype of the proband exhibited 46, XY, add(20) (q13.3). The karyotype of the mother indicated a balanced translocation karyotype: 46, XX, t(4;20) (p15...
November 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28641618/-clinical-and-cytogenetic-characteristics-of-two-aml-patients-with-high-level-mll-expression
#8
Jia-Wei Zhao, Kun Ru, Cheng-Wen Li, Ke-Jing Tang, Ying-Chun Zheng, Cheng-Hua Cui, Jing Xiao, Sheng-Hua Chen, Xiao-Jing Wang
OBJECTIVE: To investigate the clinical and cytogenetic characteristics of high-level mixed-lineage leukaemia (MLL) gene amplification in patients with acute myeloid leukemia (AML). METHODS: The clinical and cytogenetic data of 2 AML patients with high-level MLL amplification from January 2010 to August 2016 were analyzed retrospectively. RESULTS: The two AML cases were in middle-aged population. They were diagnosed as FAB subtype M5b and M2a respectively...
June 2017: Zhongguo Shi Yan Xue Ye Xue za Zhi
https://www.readbyqxmd.com/read/28538178/wolf-hirschhorn-syndrome-candidate-1-is-necessary-for-correct-hematopoietic-and-b-cell-development
#9
Elena Campos-Sanchez, Nerea Deleyto-Seldas, Veronica Dominguez, Enrique Carrillo-de-Santa-Pau, Kiyoe Ura, Pedro P Rocha, JungHyun Kim, Arafat Aljoufi, Anna Esteve-Codina, Marc Dabad, Marta Gut, Holger Heyn, Yasufumi Kaneda, Keisuke Nimura, Jane A Skok, Maria Luisa Martinez-Frias, Cesar Cobaleda
Immunodeficiency is one of the most important causes of mortality associated with Wolf-Hirschhorn syndrome (WHS), a severe rare disease originated by a deletion in chromosome 4p. The WHS candidate 1 (WHSC1) gene has been proposed as one of the main genes responsible for many of the alterations in WHS, but its mechanism of action is still unknown. Here, we present in vivo genetic evidence showing that Whsc1 plays an important role at several points of hematopoietic development. Particularly, our results demonstrate that both differentiation and function of Whsc1-deficient B cells are impaired at several key developmental stages due to profound molecular defects affecting B cell lineage specification, commitment, fitness, and proliferation, demonstrating a causal role for WHSC1 in the immunodeficiency of WHS patients...
May 23, 2017: Cell Reports
https://www.readbyqxmd.com/read/28407363/de-novo-unbalanced-translocation-4p-duplication-8p-deletion-in-a-patient-with-autism-ocd-and-overgrowth-syndrome
#10
Angela Sagar, Dalila Pinto, Fedra Najjar, Stephen J Guter, Carol Macmillan, Edwin H Cook
Chromosomal abnormalities, such as unbalanced translocations and copy number variants (CNVs), are found in autism spectrum disorders (ASDs) [Sanders et al. (2011) Neuron 70: 863-885]. Many chromosomal abnormalities, including sub microscopic genomic deletions and duplications, are missed by G-banded karyotyping or Fragile X screening alone and are picked up by chromosomal microarrays [Shen et al. (2010) Pediatrics 125: e727-735]. Translocations involving chromosomes 4 and 8 are possibly the second most frequent translocation in humans and are often undetected in routine cytogenetics [Giglio et al...
June 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28266898/hepatic-malignancy-in-an-infant-with-wolf-hirschhorn-syndrome
#11
Sara Rutter, Raffaella A Morotti, Steven Peterec, Patrick G Gallagher
INTRODUCTION: Wolf-Hirschhorn syndrome (WHS) is a contiguous gene syndrome involving deletions of the chromosome 4p16 region associated with growth failure, characteristic craniofacial abnormalities, cardiac defects, and seizures. CASE REPORT: This report describes a six-month-old girl with WHS with growth failure and typical craniofacial features who died of complex congenital heart disease. Genetic studies revealed a 9.8 Mb chromosome 4p-terminal deletion. At autopsy, the liver was grossly unremarkable...
June 2017: Fetal and Pediatric Pathology
https://www.readbyqxmd.com/read/28030855/a-rare-de-novo-interstitial-duplication-at-4p15-2-in-a-boy-with-severe-congenital-heart-defects-limb-anomalies-hypogonadism-and-global-developmental-delay
#12
Liyang Liang, Yingjun Xie, Yiping Shen, Qibin Yin, Haiming Yuan
Proximal 4p deletion syndrome is a relatively rare genetic condition characterized by dysmorphic facial features, limb anomalies, minor congenital heart defects, hypogonadism, cafe-au-lait spots, developmental delay, tall and thin habitus, and intellectual disability. At present, over 20 cases of this syndrome have been published. However, duplication of the same region in proximal 4p has never been reported. Here, we describe a 2-year-5-month-old boy with severe congenital heart defects, limb anomalies, hypogonadism, distinctive facial features, pre- and postnatal developmental delay, and mild cognitive impairments...
2016: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/27822388/screening-for-subtelomeric-rearrangements-in-thai-patients-with-intellectual-disabilities-using-fish-and-review-of-literature-on-subtelomeric-fish-in-15-591-cases-with-intellectual-disabilities
#13
Chariyawan Charalsawadi, Jariya Khayman, Verayuth Praphanphoj, Pornprot Limprasert
We utilized fluorescence in situ hybridization (FISH) to screen for subtelomeric rearrangements in 82 Thai patients with unexplained intellectual disability (ID) and detected subtelomeric rearrangements in 5 patients. Here, we reported on a patient with der(20)t(X;20)(p22.3;q13.3) and a patient with der(3)t(X;3)(p22.3;p26.3). These rearrangements have never been described elsewhere. We also reported on a patient with der(10)t(7;10)(p22.3;q26.3), of which the same rearrangement had been reported in one literature...
2016: Genetics Research International
https://www.readbyqxmd.com/read/27665090/subtelomeric-copy-number-variations-the-importance-of-4p-4q-deletions-in-patients-with-congenital-anomalies-and-developmental-disability
#14
Gil M Novo-Filho, Marília M Montenegro, Évelin A Zanardo, Roberta L Dutra, Alexandre T Dias, Flavia B Piazzon, Taís V M M Costa, Amom M Nascimento, Rachel S Honjo, Chong A Kim, Leslie D Kulikowski
The most prevalent structural variations in the human genome are copy number variations (CNVs), which appear predominantly in the subtelomeric regions. Variable sizes of 4p/4q CNVs have been associated with several different psychiatric findings and developmental disability (DD). We analyzed 105 patients with congenital anomalies (CA) and developmental and/or intellectual disabilities (DD/ID) using MLPA subtelomeric specific kits (P036 /P070) and 4 of them using microarrays. We found abnormal subtelomeric CNVs in 15 patients (14...
2016: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/27503198/survival-of-del17p-cll-depends-on-genomic-complexity-and-somatic-mutation
#15
COMPARATIVE STUDY
Lijian Yu, Haesook T Kim, Siddha Kasar, Parul Benien, Wei Du, Kevin Hoang, Andrew Aw, Bethany Tesar, Reina Improgo, Stacey Fernandes, Saranya Radhakrishnan, Josephine Klitgaard, Charles Lee, Gad Getz, Sunita R Setlur, Jennifer R Brown
PURPOSE: Chronic lymphocytic leukemia (CLL) with 17p deletion typically progresses quickly and is refractory to most conventional therapies. However, some del(17p) patients do not progress for years, suggesting that del(17p) is not the only driving event in CLL progression. We hypothesize that other concomitant genetic abnormalities underlie the clinical heterogeneity of del(17p) CLL. EXPERIMENTAL DESIGN: We profiled the somatic mutations and copy number alterations (CNA) in a large group of del(17p) CLLs as well as wild-type CLL and analyzed the genetic basis of their clinical heterogeneity...
February 1, 2017: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
https://www.readbyqxmd.com/read/27299776/simultaneously-tracing-the-geographical-origin-and-presence-of-bovine-milk-in-italian-water-buffalo-mozzarella-cheese-using-maldi-tof-data-of-casein-signature-peptides
#16
Simonetta Caira, Gabriella Pinto, Maria Adalgisa Nicolai, Lina Chianese, Francesco Addeo
Water buffalo (WB) casein (CN) and curd samples from indigenous Italian and international breeds were examined with the objective of identifying signature peptides that could function as an indicator to determine the origin of their milk products. CN in complex mixtures were digested with trypsin, and peptide fragments were subsequently identified by matrix-assisted laser desorption/ionisation time-of-flight mass spectrometry (MALDI-TOF MS). The unique presence of a β-CN A variant and an internally deleted αs1-CN (f35-42) variant in international WB milk samples was ascertained by identifying signature tryptic peptides from either dephosphorylated or native CN...
August 2016: Analytical and Bioanalytical Chemistry
https://www.readbyqxmd.com/read/27192890/partial-trisomy-4p-and-partial-monosomy-13q-case-report-and-a-literature-review
#17
REVIEW
S Puvabanditsin, G Herrera-Garcia, N Gengel, K Hussein, M February, J Mayne, R Mehta
We report on a term first born dichorionic-diamniotic twin with deletion of the distal long arm of chromosome 13, partial trisomy of the short arm of chromosome 4, intrauterine growth retardation, and multiple anomalies including microcephaly, colpocephaly, absent corpus callosum, bulbous tip of the nose, large and low set ears, macroglossia, thin upper lip, double outlet right ventricle, atria/ventricular septal defect, cleft mitral valve, pulmonary stenosis, single umbilical artery, multicystic dysplastic left kidney, sacral dimple, anterior displacement of anus, simian creases, abnormal thumb (congenital clasped thumb), overlapping toes, and congenital hypothyroidism...
2016: Genetic Counseling
https://www.readbyqxmd.com/read/26960370/analyses-of-genotypes-and-phenotypes-of-ten-chinese-patients-with-wolf-hirschhorn-syndrome-by-multiplex-ligation-dependent-probe-amplification-and-array-comparative-genomic-hybridization
#18
Wen-Xu Yang, Hong Pan, Lin Li, Hai-Rong Wu, Song-Tao Wang, Xin-Hua Bao, Yu-Wu Jiang, Yu Qi
BACKGROUND: Wolf-Hirschhorn syndrome (WHS) is a contiguous gene syndrome that is typically caused by a deletion of the distal portion of the short arm of chromosome 4. However, there are few reports about the features of Chinese WHS patients. This study aimed to characterize the clinical and molecular cytogenetic features of Chinese WHS patients using the combination of multiplex ligation-dependent probe amplification (MLPA) and array comparative genomic hybridization (array CGH). METHODS: Clinical information was collected from ten patients with WHS...
March 20, 2016: Chinese Medical Journal
https://www.readbyqxmd.com/read/26927259/detection-of-recurrent-4p16-3-microdeletion-with-2p25-3-microduplication-by-multiplex-ligation-dependent-probe-amplification-and-array-comparative-genomic-hybridization-in-a-fetus-from-a-family-with-wolf-hirschhorn-syndrome
#19
Wen-Xu Yang, Hong Pan, Song-Tao Wang, Lin Li, Hai-Rong Wu, Yu Qi
OBJECTIVE: We present prenatal diagnosis, genetic counseling, and molecular cytogenetic features of familial recurrence of Wolf-Hirschhorn syndrome (WHS). MATERIALS AND METHODS: A 31-year-old woman was referred to a hospital at 24 weeks of gestation because of abnormal ultrasound findings in the fetus. Her first child was a boy who had growth retardation, mental defect, and a distinctive facial appearance. Based on the conventional cytogenetic analysis, the combined use of multiplex ligation-dependent probe amplification (MLPA) and array comparative genomic hybridization (aCGH) facilitated the prenatal diagnosis and genetic counseling in the fetus...
February 2016: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/26916021/new-functions-of-the-inositol-polyphosphate-5-phosphatases-in-cancer
#20
REVIEW
Christophe Erneux, Somadri Ghosh, Ana Raquel Ramos, William's Elong Edimo
Inositol polyphosphate 5-phosphatases act on inositol phosphates and phosphoinositides as substrates. They are 10 different isoenzymes and several splice variants in the human genome that are involved in a series of human pathologies such as the Lowe syndrome, the Joubert and MORM syndromes, breast cancer, glioblastoma, gastric cancer and several other type of cancers. Inositol 5-phosphatases can be amplified in human cancer cells, whereas the 3- and 4- phosphatase tumor suppressor PTEN and INPP4B, repectively are often repressed or deleted...
2016: Current Pharmaceutical Design
keyword
keyword
75128
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"