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4p deletion

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52 papers 0 to 25 followers Wolf-Hirschhorn Syndrome
By John Paruch Combined training in Internal Medicine-Psychiatry with holistic, evidence-based, preventive approach to implementation and promotion of wellness.
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
Ayako Itakura, Yoshiaki Saito, Yoko Nishimura, Tetsuya Okazaki, Koyo Ohno, Hitoshi Sejima, Toshiyuki Yamamoto, Yoshihiro Maegaki
A girl with mild psychomotor developmental delay developed right or left hemiclonic convulsion at 10months of age. One month later, clusters of hemiclonic or bilateral tonic seizures with eyelid twitching emerged, resulting in status epilepticus. Treatment with phenobarbital and potassium bromide completely terminated the seizures within 10days. Ictal electroencephalography revealed a migrating focus of rhythmic 3-4Hz waves from the right temporal to right frontal regions and then to the left frontal regions...
August 2016: Brain & Development
Sarah T South, Steven B Bleyl, John C Carey
Wolf-Hirschhorn syndrome (WHS) is characterized by growth delay, developmental delay, hypotonia, seizures, feeding difficulties, and characteristic facial features. Deletion of either of two critical regions (WHSCR and WHSCR-2) within chromosome band 4p16.3 has been proposed as necessary for the minimal clinical manifestations of WHS and controversy remains regarding their designation. We describe two patients with novel terminal microdeletions in 4p16.3 who lack the characteristic facial features but do show some of the more nonspecific manifestations of WHS...
September 15, 2007: American Journal of Medical Genetics. Part A
Jannine DeMars Cody, Daniel Esten Hale
Individuals affected by the classic chromosome deletion syndromes which were first identified at the beginning of the genetic age, are now positioned to benefit from genomic advances. This issue highlights five of these conditions (4p-, 5p-, 11q-, 18p-, and 18q-). It focuses on the increased in understanding of the molecular underpinnings and envisions how these can be transformed into effective treatments. While it is scientifically exciting to see the phenotypic manifestations of hemizygosity being increasingly understood at the molecular and cellular level, it is even more amazing to consider that we are now on the road to making chromosome abnormalities treatable conditions...
September 2015: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
Fady M Mikhail, Achara Sathienkijkanchai, Nathaniel H Robin, Sandra Prucka, Julie Sanford Biggerstaff, Jan Komorowski, Robin Andersson, Carl E G Bruder, Arkadiusz Piotrowski, Teresita Diaz de Ståhl, Jan P Dumanski, Andrew J Carroll
We report on an 8-month-old girl with a novel unbalanced chromosomal rearrangement, consisting of a terminal deletion of 4p and a paternal duplication of terminal 11p. Each of these is associated with the well-known clinical phenotypes of Wolf-Hirschhorn syndrome (WHS) and Beckwith-Wiedemann syndrome (BWS), respectively. She presented for clinical evaluation of dysmorphic facial features, developmental delay, atrial septal defect (ASD), and left hydronephrosis. High-resolution cytogenetic analysis revealed a normal female karyotype, but subtelomeric fluorescence in situ hybridization (FISH) analysis revealed a der(4)t(4;11)(pter;pter)...
August 1, 2007: American Journal of Medical Genetics. Part A
Klara Flipsen-ten Berg, Peter M van Hasselt, Marc J Eleveld, Suzanne E van der Wijst, Frans A Hol, Monique A M de Vroede, Frits A Beemer, P F Ron Hochstenbach, Martin Poot
The Wolf-Hirschhorn syndrome (WHS (MIM 194190)), which is characterized by growth delay, mental retardation, epilepsy, facial dysmorphisms, and midline fusion defects, shows extensive phenotypic variability. Several of the proposed mutational and epigenetic mechanisms in this and other chromosomal deletion syndromes fail to explain the observed phenotypic variability. To explain the complex phenotype of a patient with WHS and features reminiscent of Wolfram syndrome (WFS (MIM 222300)), we performed extensive clinical evaluation and classical and molecular cytogenetic (GTG banding, FISH and array-CGH) and WFS1 gene mutation analyses...
November 2007: European Journal of Human Genetics: EJHG
Marcella Zollino, Rosetta Lecce, Marina Murdolo, Daniela Orteschi, Giuseppe Marangi, Angelo Selicorni, Alina Midro, Giovanni Sorge, Giuseppe Zampino, Luigi Memo, Domenica Battaglia, Michael Petersen, Effie Pandelia, Yolanda Gyftodimou, Francesca Faravelli, Romano Tenconi, Livia Garavelli, Laura Mazzanti, Rita Fischetto, Pietro Cavalli, Salvatore Savasta, Laura Rodriguez, Giovanni Neri
The basic genomic defect in Wolf-Hirschhorn syndrome (WHS), including isolated 4p deletions and various unbalanced de novo 4p;autosomal translocations and above all t(4p;8p), is heterogeneous. Olfactory receptor gene clusters (ORs) on 4p were demonstrated to mediate a group of WHS-associated t(4p;8p)dn translocations. The breakpoint of a 4-Mb isolated deletion was also recently reported to fall within the most distal OR. However, it is still unknown whether ORs mediate all 4p-autosomal translocations, or whether they are involved in the origin of isolated 4p deletions...
December 2007: Human Genetics
Lingqian Wu, Zhigao Long, Desheng Liang, Naoki Harada, Qian Pan, Koh-ichiro Yoshiura, Kun Xia, Heping Dai, Norio Niikawa, Jiahui Xia
No abstract text is available yet for this article.
March 15, 2008: American Journal of Medical Genetics. Part A
Roman Hossein Khonsari, Keith M Blechman, Joe Michaels, Mordechai Vigler, David T W Chiu, Robert Wallerstein, Francine Blei
No abstract text is available yet for this article.
July 2008: Clinical Dysmorphology
Sarah T South, Heidi Whitby, Teresa Maxwell, Emily Aston, Arthur R Brothman, John C Carey
Paternal duplications of chromosome region 11p15 can result in Beckwith-Weidemann syndrome (BWS), whereas maternal duplications of the same region on 11p15 can result in Russell-Silver syndrome (RSS). These two syndromes have numerous opposing phenotypes, especially with regards to growth parameters. The differences in the phenotype are proposed to be due to altered dosage of imprinted genes that control growth within this region of 11p15. Wolf-Hirschhorn syndrome (WHS) is due to deletions of a region in 4p16...
October 15, 2008: American Journal of Medical Genetics. Part A
Marcella Zollino, Marina Murdolo, Giuseppe Marangi, Vanna Pecile, Cinzia Galasso, Laura Mazzanti, Giovanni Neri
Based on genotype-phenotype correlation analysis of 80 Wolf-Hirschhorn syndrome (WHS) patients, as well as on review of relevant literature, we add further insights to the following aspects of WHS: (1) clinical delineation and phenotypic categories; (2) characterization of the basic genomic defect, mechanisms of origin and familiarity; (3) identification of prognostic factors for mental retardation; (4) chromosome mapping of the distinctive clinical signs, in an effort to identify pathogenic genes. Clinically, we consider that minimal diagnostic criteria for WHS, defining a "core" phenotype, are typical facial appearance, mental retardation, growth delay and seizures (or EEG anomalies)...
November 15, 2008: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
Sarah T South, Femke Hannes, Gene S Fisch, Joris Robert Vermeesch, Marcella Zollino
Within recent years, numerous individuals have been identified with terminal 4p microdeletions distal to the currently described critical regions for the Wolf-Hirschhorn syndrome (WHS). Some of these individuals do not display features consistent with WHS whereas others have a clinical phenotype with some overlap to the WHS phenotype. In this review we discuss the genetic and clinical presentation of these cases in an attempt to understand the consequence of monosomy of the genes distal to the proposed critical regions and identify the distal boundary for pathogenic genes involved in components of the WHS phenotype...
November 15, 2008: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
Kurt Hirschhorn
Deletion of the short arm of chromosome 4 (4p-) was first described in 1961 [Hirschhorn and Cooper, 1961], and the second case of 4p- was published in 1965 [Hirschhorn et al., 1965]. This short history describes the original case and the sequence of events leading to the publications.
November 15, 2008: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
Agatino Battaglia, Tiziana Filippi, John C Carey
Wolf-Hirschhorn syndrome (WHS) is a well-known multiple congenital anomalies/mental retardation syndrome, firstly described in 1961 by Cooper and Hirschhorn. Its frequency is estimated as 1/50,000-1/20,000 births, with a female predilection of 2:1. The disorder is caused by partial loss of material from the distal portion of the short arm of chromosome 4 (4p16.3), and is considered a contiguous gene syndrome. No single gene deletions or intragenic mutations have been shown to confer the full WHS phenotype. Since the disorder was brought to the attention of geneticists, many additional cases have been published...
November 15, 2008: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
Jeong Hyun Kim, Phil Soo Oh, Hye Yeon Na, Sun-Hee Kim, Hyoun Chan Cho
Ring chromosome is a structural abnormality that is thought to be the result of fusion and breakage in the short and long arms of chromosome. Wolf-Hirschhorn syndrome (WHS) is a well-known congenital anomaly in the ring chromosome 4 with a partial deletion of the distal short arm. Here we report a 10-month-old male of mosaic ring chromosome 4 with the chief complaint of severe short stature. He showed the height of -4 standard deviation, subtle hypothyroidism and mild atrial septal defect/ventricular septal defect, and also a mild language developmental delay was suspected...
February 2009: Korean Journal of Laboratory Medicine
Catarina Catela, Daniel Bilbao-Cortes, Esfir Slonimsky, Paschalis Kratsios, Nadia Rosenthal, Pascal Te Welscher
Wolf-Hirschhorn syndrome (WHS) is caused by deletions in the short arm of chromosome 4 (4p) and occurs in about one per 20,000 births. Patients with WHS display a set of highly variable characteristics including craniofacial dysgenesis, mental retardation, speech problems, congenital heart defects, short stature and a variety of skeletal anomalies. Analysis of patients with 4p deletions has identified two WHS critical regions (WHSCRs); however, deletions targeting mouse WHSCRs do not recapitulate the classical WHS defects, and the genes contributing to WHS have not been conclusively established...
May 2009: Disease Models & Mechanisms
M Roselló, S Monfort, C Orellana, I Ferrer-Bolufer, R Quiroga, S Oltra, F Martínez
Chromosomal rearrangements in the short arm of chromosome 4 can result in 2 different clinical entities: Wolf-Hirschhorn syndrome (WHS), characterized by severe growth delay, mental retardation, microcephaly, 'Greek helmet' facies, and closure defects, or partial 4p trisomy, associated with multiple congenital anomalies, mental retardation, and facial dysmorphisms. We present clinical and laboratory findings in a patient who showed a small duplication in 4p16.3 associated with a subtle terminal deletion in the same chromosomal region...
2009: Cytogenetic and Genome Research
Nathanael G Bailey, Sarah T South, Marybeth Hummel, Sharon L Wenger
We report on a two-year-old female with a de novo proximal interstitial deletion of the short arm of chromosome 4 and a tetralogy of Fallot malformation. The patient had a karyotype of 46,XX,del(4)(p14p15.33) that was further characterized by array comparative genomic hybridization (aCGH). Phenotypic abnormalities for our patient are compared with those of previously reported patients with similar proximal 4p deletions as well as more distal deletions. The functions of genes that are deleted within this segment are reviewed...
2010: Journal of the Association of Genetic Technologists
Femke Hannes, Malgorzata Drozniewska, Joris R Vermeesch, Olga Haus
Wolf-Hirschhorn Syndrome (WHS) is caused by deletions on chromosome 4p and is clinically well defined. Genotype-phenotype correlations of patients with WHS point to a critical locus to be responsible for the main characteristics of this disorder. Submicroscopic duplications of this region, however, are not known. Here we report a patient with an interstitial 560 kb duplication overlapping this critical locus. The present case shows that not only deletions but also duplications of the Wolf-Hirshhorn critical region cause mental retardation and multiple congenital anomalies...
May 2010: European Journal of Medical Genetics
Se Jin Mun, Eun Hae Cho, Myoung-Jae Chey, Gyu-Hong Shim, Bo-Moon Shin, Rae-Kyung Lee, Ji-Kyung Ko, Soo Jin Yoo
Pericentric inversion of chromosome 4 can give rise to 2 alternate recombinant (rec) chromosomesby duplication or deletion of 4p. The deletion of distal 4p manifests as Wolf-Hirschhorn syndrome (WHS). Here, we report the molecular cytogenetic findings and clinical manifestations observed in an infant with 46,XX,rec(4)dup(4q)inv(4)(p16q31.3)pat. The infant was delivered by Cesarean section at the 33rd week of gestation because pleural effusion and polyhydramnios were detected on ultrasonography. At birth, the infant showed no malformation or dysfunction, except for a preauricular skin tag...
February 2010: Korean Journal of Laboratory Medicine
2015-09-10 04:05:28
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