Wolf-Hirschhorn syndrome

Wolf Hischhorn Chromosome Abnormality
Andrew Waters
https://sharepoint.cisat.jmu.edu

DNA strand, mRNA strand
http://www.unity.edu

Disease or Disorder
http://www.sanjuan.edu

Genetics
http://www.cabrillo.edu/

MEIOSIS
http://www.brazosport.edu

A Review of Genetics for the Pediatric Board Exam
Michael Wangler, M.D.
http://www.bcm.edu

Chromosomal Structure and Chromosomal Mutations
http://cls.umc.edu

Hematology/Oncology Grand Rounds
Michael Tomasson, MD
http://hematology.im.wustl.edu

Genetic Malformation Syndromes Chromosomal
Christine A. Weaver, M.D., Ph.D.
https://www.med.illinois.edu

Positional cloning of the Huntington’s disease (HD) gene
http://faculty.washington.edu

Basics of Genetic Assessment and Counseling
Charles J. Macri, MD
http://www.gwumc.edu/edu

Ingenious Gene Therapy
Damon Loya,Haddy Ruiz, Pantea Homayoonmehr, Eric Tu
http://courses.csusm.edu

Antidysrhythmic Agents
http://faculty.plattsburgh.edu

Collagen Disorders
http://www.med.umich.edu

Chromosome Disorders
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Genetic Syndromes
http://www.bcm.edu

198 Published articles on Wolf-Hirschhorn syndrome

1. [Paternally originated Wolf-Hirschhorn syndrome detected by multiplex ligation-dependent probe amplification and microarray comparative genomic hybridization].
2. Interstitial microduplication 12q13.2-q13.3 in a patient with dysmorphism, developmental delay, atypical seizures and hypospadias: not a phenocopy of Wolf-Hirschhorn syndrome.
3. Wolf-Hirschhorn syndrome: A case demonstrated by a cytogenetic study.
4. Three patients with Wolf-Hirschhorn syndrome carrying a satellited chromosome 4p.
5. A Case of Wolf-Hirschhorn Syndrome and Hypoplastic Left Heart Syndrome.
6. A microdeletion proximal of the critical deletion region is associated with mild Wolf-Hirschhorn syndrome.
7. Prenatal diagnosis of Wolf-Hirschhorn syndrome confirmed by comparative genomic hybridization array: report of two cases and review of the literature.
8. Epilepsy in a child with Wolf-Hirschhorn syndrome.
9. Characterizing the functional consequences of haploinsufficiency of NELF-A (WHSC2) and SLBP identifies novel cellular phenotypes in Wolf-Hirschhorn syndrome.
10. [Anaesthetic management of the Wolf-Hirschhorn syndrome: a report of two cases].
11. Histone lysine methyltransferase Wolf-Hirschhorn syndrome candidate 1 is involved in human carcinogenesis through regulation of the Wnt pathway.
12. Fine-grained facial phenotype-genotype analysis in Wolf-Hirschhorn syndrome.
13. Wolf-Hirschhorn syndrome candidate 1 is involved in the cellular response to DNA damage.
14. Wolf-Hirschhorn syndrome due to pure and translocation forms of monosomy 4p16.1 → pter.
15. Oral features in five adult patients with Wolf-Hirschhorn syndrome.
16. Anesthetic experience using total intra-venous anesthesia for a patient with Wolf-Hirschhorn syndrome -A case report-.
17. C4ORF48, a gene from the Wolf-Hirschhorn syndrome critical region, encodes a putative neuropeptide and is expressed during neocortex and cerebellar development.
18. Cognitive-behavioral features of Wolf-Hirschhorn syndrome and other subtelomeric microdeletions.
19. Congenital diaphragmatic hernia and a complex heart defect in association with Wolf-Hirschhorn syndrome.
20. Diagnosis and fine localization of deletion region in Wolf-Hirschhorn syndrome patients.
21. Congenital portosystemic shunt in a child with Wolf-Hirschhorn syndrome.
22. Clinical characterization and proposed mechanism of juvenile glaucoma--a patient with a chromosome 4p deletion, Wolf-Hirschhorn Syndrome.
23. Wolf-Hirschhorn syndrome with improvement of renal function.
24. Interstitial microdeletion of 4p16.3: contribution of WHSC1 haploinsufficiency to the pathogenesis of developmental delay in Wolf-Hirschhorn syndrome.
25. Wolf-Hirschhorn Syndrome.
26. Wolf-Hirschhorn syndrome; oro-dental manifestations and management.
27. Duplication of the Wolf-Hirschhorn syndrome critical region causes neurodevelopmental delay.
28. Case report: cytogenetic and molecular analysis of proximal interstitial deletion of 4p, review of the literature and comparison with wolf-hirschhorn syndrome.
29. Wolf-Hirschhorn syndrome: diagnosis using hand radiograph performed for bone age.
30. Wolf-Hirschhorn syndrome and ectrodactyly: New findings and a review of the literature.
31. A Drosophila mutant of LETM1, a candidate gene for seizures in Wolf-Hirschhorn syndrome.
32. Tethered cord, corpus callosum abnormalities, and periventricular cysts in Wolf-Hirschhorn syndrome. Report of two cases and review of the literature.
33. Keeping it simple: what mouse models of Wolf-Hirschhorn syndrome can tell us about large chromosomal deletions.
34. Ocular manifestations in Wolf-Hirschhorn syndrome.
35. A histone H3 lysine 36 trimethyltransferase links Nkx2-5 to Wolf-Hirschhorn syndrome.
36. Inv dup del(4)(:p13-->p16.3::p16.3-->qter) in a girl without typical manifestations of Wolf-Hirschhorn syndrome.
37. Distinctive EEG patterns in patients with Wolf-Hirschhorn syndrome.
38. Multiple congenital malformations of Wolf-Hirschhorn syndrome are recapitulated in Fgfrl1 null mice.
39. Spectrum of epilepsy and electroencephalogram patterns in Wolf-Hirschhorn syndrome: experience with 87 patients.
40. Phenocopy of Wolf-Hirschhorn syndrome in a patient with duplication 12q13.3q14.1.
41. Cognitive-behavioral features of children with Wolf-Hirschhorn syndrome: preliminary report of 12 cases.
42. A short history of the initial discovery of the Wolf-Hirschhorn syndrome.
43. Wolf-Hirschhorn syndrome and the 4p-related syndromes.
44. Mouse models of Wolf-Hirschhorn syndrome.
45. Pathogenic significance of deletions distal to the currently described Wolf-Hirschhorn syndrome critical regions on 4p16.3.
46. On the nosology and pathogenesis of Wolf-Hirschhorn syndrome: genotype-phenotype correlation analysis of 80 patients and literature review.
47. Wolf-Hirschhorn syndrome facial dysmorphic features in a patient with a terminal 4p16.3 deletion telomeric to the WHSCR and WHSCR 2 regions.
48. Co-occurrence of 4p16.3 deletions with both paternal and maternal duplications of 11p15: modification of the Wolf-Hirschhorn syndrome phenotype by genetic alterations predicted to result in either a Beckwith-Wiedemann or Russell-Silver phenotype.
49. Seizure frequency in adults with Wolf-Hirschhorn syndrome.
50. The terminal 760 kb region on 4p16 is unlikely to be the critical interval for growth delay in Wolf-Hirschhorn syndrome.
51. Bilateral microphthalmia with orbital cysts in Wolf-Hirschhorn syndrome.
52. Wolf-Hirschhorn syndrome.
53. Prenatal diagnosis of concomitant Wolf-Hirschhorn syndrome and split hand-foot malformation associated with partial monosomy 4p (4p16.1-->pter) and partial trisomy 10q (10q25.1-->qter).
54. Translocation form of Wolf-Hirschhorn syndrome --assessment of recurrence rate probability.
55. Multiple hemangiomas in a patient with a t(3q;4p) translocation: an infrequent association with Wolf-Hirschhorn syndrome.
56. Diagnosis of a terminal deletion of 4p with duplication of Xp22.31 in a patient with findings of Opitz G/BBB syndrome and Wolf-Hirschhorn syndrome.
57. LETM1, deleted in Wolf-Hirschhorn syndrome is required for normal mitochondrial morphology and cellular viability.
58. Deletion of a 760 kb region at 4p16 determines the prenatal and postnatal growth retardation characteristic of Wolf-Hirschhorn syndrome.
59. Growth charts for Wolf-Hirschhorn syndrome (0-4 years of age).
60. Genotype-phenotype correlation in 21 patients with Wolf-Hirschhorn syndrome using high resolution array comparative genome hybridisation (CGH).
61. Comprehensive analysis of Wolf-Hirschhorn syndrome using array CGH indicates a high prevalence of translocations.
62. Wolf-Hirschhorn syndrome-associated chromosome changes are not mediated by olfactory receptor gene clusters nor by inversion polymorphism on 4p16.
63. A case of Wolf-Hirschhorn syndrome progressing to resistant epilepsy.
64. Unmasking of a hemizygous WFS1 gene mutation by a chromosome 4p deletion of 8.3 Mb in a patient with Wolf-Hirschhorn syndrome.
65. Brain magnetic resonance imaging in Wolf-Hirschhorn syndrome.
66. Oligomeganephronia in Wolf-Hirschhorn Syndrome.
67. Microarray-based comparative genomic hybridization analysis of Wolf-Hirschhorn syndrome in a fetus with deletion of 4p15.3 to 4pter.
68. Prenatal diagnosis of Wolf-Hirschhorn syndrome (4p-) in association with congenital diaphragmatic hernia, cystic hygroma and IUGR.
69. [Epilepsy in three children with Wolf-Hirschhorn syndrome].
70. Distal 4p microdeletion in a case of Wolf-Hirschhorn syndrome with congenital diaphragmatic hernia.
71. Ring chromosome 4 and Wolf-Hirschhorn syndrome (WHS) in a child with multiple anomalies.
72. Dental findings of a child with Wolf-Hirschhorn syndrome.
73. Prenatal detection of a de novo terminal inverted duplication 4p in a fetus with the Wolf-Hirschhorn syndrome phenotype.
74. The new Wolf-Hirschhorn syndrome critical region (WHSCR-2): a description of a second case.
75. Physical and developmental phenotype analyses in a boy with Wolf-Hirschhorn syndrome.
76. The etiology of Wolf-Hirschhorn syndrome.
77. Ultrasonographic findings of facial dysmorphism in Wolf-Hirschhorn syndrome.
78. Wolf-Hirschhorn syndrome--two case-study reports focusing particularly on long-term survival.
79. Epilepsy in Wolf-Hirschhorn syndrome (4p-).
80. [Wolf-Hirschhorn syndrome].
81. 4p terminal deletion and 11p subtelomeric duplication detected by genomic microarray in a patient with Wolf-Hirschhorn syndrome and an atypical phenotype.
82. Dental characteristics of the Wolf-Hirschhorn syndrome: a case report.
83. Mild Wolf-Hirschhorn syndrome: micro-array CGH analysis of atypical 4p16.3 deletions enables refinement of the genotype-phenotype map.
84. Duplication 4p and deletion 4p (Wolf-Hirschhorn syndrome) due to complementary gametes from a 3:1 segregation of a maternal balanced t(4;13)(p16;q11) translocation.
85. Ophthalmic manifestations of Wolf-Hirschhorn syndrome.
86. Histopathological basis of hearing impairment in Wolf-Hirschhorn syndrome.
87. A double cryptic chromosome imbalance is an important factor to explain phenotypic variability in Wolf-Hirschhorn syndrome.
88. The LETM1/YOL027 gene family encodes a factor of the mitochondrial K+ homeostasis with a potential role in the Wolf-Hirschhorn syndrome.
89. Early diagnosis of Wolf-Hirschhorn syndrome triggered by a life-threatening event: congenital diaphragmatic hernia.
90. Cutaneous T-cell lymphoma in a 21-year-old male with Wolf-Hirschhorn syndrome.
91. Clinical, cytogenetic and molecular investigation in a fetus with Wolf-Hirschhorn syndrome with paternally derived 4p deletion. Case report and review of the literature.
92. Wolf-Hirschhorn syndrome with posterior intraorbital coloboma cyst: an unusual case.
93. Speech and language in Wolf-Hirschhorn syndrome: a case-study.
94. LETM1, a gene deleted in Wolf-Hirschhorn syndrome, encodes an evolutionarily conserved mitochondrial protein.
95. MSX1 gene is deleted in Wolf-Hirschhorn syndrome patients with oligodontia.
96. Out-of-hospital management of benzodiazepine-resistant status epilepticus in a child with Wolf-Hirschhorn syndrome.
97. Inv dup del(4)(:p14 --> p16.3::p16.3 --> qter) with manifestations of partial duplication 4p and Wolf-Hirschhorn syndrome.
98. A study of EEG and epilepsy profile in Wolf-Hirschhorn syndrome and considerations regarding its correlation with other chromosomal disorders.
99. Malignant hematological disorders in children with Wolf-Hirschhorn syndrome.
100. [Genetic determination of Wolf-Hirschhorn syndrome ].
101. Mapping the Wolf-Hirschhorn syndrome phenotype outside the currently accepted WHS critical region and defining a new critical region, WHSCR-2.
102. Prenatal diagnosis of Wolf-Hirschhorn syndrome (4p-) in association with congenital hypospadias and foot deformity.
103. Choroid plexus cysts and oligohydramnios: presenting echographic signs in a female fetus with deletion of the Wolf-Hirschhorn syndrome region (4p16.3).
104. Unusual chromosomal mosaicism in Wolf-Hirschhorn syndrome: del(4)(p16)/der(4)(qter-q31.3::pter-qter).
105. An epidemiological study of Wolf-Hirschhorn syndrome: life expectancy and cause of mortality.
106. [Dwarfism-dysmorphic facies-retardation, Pitt type, Pitt-Rogers-Danks syndrome, Wolf-Hirschhorn syndrome, 4p-syndrome].
107. Genotype-phenotype correlations in Wolf-Hirschhorn syndrome.
108. Molecular and clinical characterization of a patient with a chromosome 4p deletion, Wolf-Hirschhorn syndrome, and congenital glaucoma.
109. First known microdeletion within the Wolf-Hirschhorn syndrome critical region refines genotype-phenotype correlation.
110. Unexpected high frequency of de novo unbalanced translocations in patients with Wolf-Hirschhorn syndrome (WHS).
111. Discrepancies in cytogenetic results between different tissues in two fetuses with Wolf- Hirschhorn syndrome.
112. A second case of inv(4)pat with both recombinants in the offspring: rec dup(4q) in a girl with Wolf-Hirschhorn syndrome and rec dup(4p).
113. Microdeletion 4p16.3 in three unrelated patients with Wolf-Hirschhorn syndrome.
114. Wolf-Hirschhorn syndrome due to a 3:1 segregation of a maternal balanced t(4;15)(p16.3;q11) translocation.
115. Genotype-phenotype correlations and clinical diagnostic criteria in Wolf-Hirschhorn syndrome.
116. Effect of the size of the deletion and clinical manifestation in Wolf-Hirschhorn syndrome: analysis of 13 patients with a de novo deletion.
117. Prenatal diagnosis of a fetus with a cryptic translocation 4p;18p and Wolf-Hirschhorn syndrome (WHS).
118. Vesicoureteric reflux associated with renal dysplasia in the Wolf-Hirschhorn syndrome.
119. Wolf-Hirschhorn syndrome (WHS): a history in pictures.
120. Management of sleeping problems in Wolf-Hirschhorn syndrome: a case study.
121. Health supervision and anticipatory guidance of individuals with Wolf-Hirschhorn syndrome.
122. LETM1, a novel gene encoding a putative EF-hand Ca(2+)-binding protein, flanks the Wolf-Hirschhorn syndrome (WHS) critical region and is deleted in most WHS patients.
123. [Wolf-Hirschhorn syndrome].
124. Natural history of Wolf-Hirschhorn syndrome: experience with 15 cases.
125. "Tandem" duplication of 4p16.1p16.3 chromosome region associated with 4p16.3pter molecular deletion resulting in Wolf-Hirschhorn syndrome phenotype.
126. Absence of malignant hyperthermia in an infant with Wolf-Hirschhorn syndrome undergoing anesthesia for ophthalmic surgery.
127. De novo unbalanced translocation resulting in monosomy for proximal 14q and distal 4p in a fetus with intrauterine growth retardation, Wolf-Hirschhorn syndrome, hypertrophic cardiomyopathy, and partial hemihypoplasia.
128. Wolf-Hirschhorn syndrome: case report and review of the chromosomal aberrations associated with diaphragmatic defects.
129. Wolf-Hirschhorn syndrome with cryptic 4p16.3 deletion and balanced/unbalanced mosaicism in the mother.
130. Antibody deficiency in Wolf-Hirschhorn syndrome.
131. Identification of a de novo 46, XY,4p+ with incomplete Wolf-Hirschhorn syndrome as 46,XY,der(4)t(4;8)(p16.3;p23.1)
132. WHSC1, a 90 kb SET domain-containing gene, expressed in early development and homologous to a Drosophila dysmorphy gene maps in the Wolf-Hirschhorn syndrome critical region and is fused to IgH in t(4;14) multiple myeloma.
133. An unusual chromosome rearrangement in a patient with features of the Wolf-Hirschhorn syndrome.
134. Wolf-Hirschhorn syndrome. Review of the literature and three case studies.
135. Wolf-Hirschhorn syndrome and Pitt-Rogers-Danks syndrome.
136. Otologic manifestations of Wolf-Hirschhorn syndrome.
137. Wolf-Hirschhorn syndrome and a split-hand malformation.
138. High resolution characterization of an interstitial deletion of less than 1.9 Mb at 4p16.3 associated with Wolf-Hirschhorn syndrome.
139. Delimiting the Wolf-Hirschhorn syndrome critical region to 750 kilobase pairs.
140. Pitt-Rogers-Danks syndrome and Wolf-Hirschhorn syndrome are caused by a deletion in the same region on chromosome 4p 16.3.
141. A transcript map of the newly defined 165 kb Wolf-Hirschhorn syndrome critical region.
142. From Pitt-Rogers-Danks syndrome to Wolf-Hirschhorn syndrome and back?
143. Pitt-Rogers-Danks syndrome and Wolf-Hirschhorn syndrome.
144. The Wolf-Hirschhorn syndrome in adulthood: evaluation of a 24-year-old man with a rec(4) chromosome.
145. A unique genomic sequence in the Wolf-Hirschhorn syndrome [WHS] region of humans is conserved in the great apes.
146. On two patients with and without the classical Wolf-Hirschhorn syndrome (WHS) sharing the same chromosome 4p16.3 specific probe deletion: evidence of a contiguous gene deletion syndrome.
147. Familial Wolf-Hirschhorn syndrome resulting from a cryptic translocation: a clinical and molecular study.
148. [Wolf-Hirschhorn syndrome, cat cry syndrome].
149. Familial translocation resulting in Wolf-Hirschhorn syndrome in two related unbalanced individuals: clinical evaluation of a 39-year-old man with Wolf-Hirschhorn syndrome.
150. Twenty-seven-year follow-up in the Wolf-Hirschhorn syndrome.
151. A patient with Wolf-Hirschhorn syndrome originating from translocation t(4;8) (p16.3;q24.3)pat.
152. [4P- syndrome (Wolf-Hirschhorn syndrome) complicated with delay onset of malignant hyperthermia: a case report].
153. FISH detection of Wolf-Hirschhorn syndrome: exclusion of D4F26 as critical site.
154. [Partial deletion of the short arm of chromosome 4 (the Wolf-Hirschhorn syndrome) with reference to the neurological and electroencephalographic aspects].
155. A practical application of fluorescent in situ hybridization to the Wolf-Hirschhorn syndrome.
156. Cleft lip and hemangioma: a patient with Wolf-Hirschhorn syndrome.
157. Molecular characterisation of chromosome 4p deletions resulting in Wolf-Hirschhorn syndrome.
158. Parental origin of chromosome 4p deletion in Wolf-Hirschhorn syndrome.
159. Interstitial deletion of distal chromosome 4p in a patient without classical Wolf-Hirschhorn syndrome.
160. The Wolf-Hirschhorn syndrome in fetuses.
161. Molecular detection of a 4p deletion using PCR-based polymorphisms: a technique for the rapid detection of the Wolf-Hirschhorn syndrome.
162. A molecular deletion of distal chromosome 4p in two families with a satellited chromosome 4 lacking the Wolf-Hirschhorn syndrome phenotype.
163. Clinical, cytogenetic and molecular investigations in three patients with Wolf-Hirschhorn syndrome.
164. Molecular definition of the smallest region of deletion overlap in the Wolf-Hirschhorn syndrome.
165. A submicroscopic translocation, t(4;10), responsible for recurrent Wolf-Hirschhorn syndrome identified by allele loss and fluorescent in situ hybridisation.
166. A complex rearrangement associated with sex reversal and the Wolf-Hirschhorn syndrome: a cytogenetic and molecular study.
167. Paternal origin of the de novo deleted chromosome 4 in Wolf-Hirschhorn syndrome.
168. Molecular confirmation of Wolf-Hirschhorn syndrome with a subtle translocation of chromosome 4.
169. Paternal origin of the chromosomal deletion resulting in Wolf-Hirschhorn syndrome.
170. Molecular analysis of 4p deletion associated with Wolf-Hirschhorn syndrome moving the "critical segment" towards the telomere.
171. Prenatal diagnosis of cystic hygroma and chorioangioma in the Wolf-Hirschhorn syndrome.
172. The human homeobox gene HOX7 maps to chromosome 4p16.1 and may be implicated in Wolf-Hirschhorn syndrome.
173. Familial Wolf-Hirschhorn syndrome associated with Rieger anomaly of the eye.
174. Growth retardation in Wolf-Hirschhorn syndrome.
175. Malignant hyperthermia in the Wolf-Hirschhorn syndrome.
176. Interstitial deletion of the short arm of chromosome 4. A phenotype distinct from the Wolf-Hirschhorn syndrome.
177. Malignant hyperthermia in the Wolf-Hirschhorn syndrome.
178. A histological study of the temporal bones and the nose in Wolf-Hirschhorn syndrome.
179. De novo inv del(4) in an infant with the Wolf-Hirschhorn syndrome.
180. De novo del(4) (p15.32) with incomplete expression of the Wolf-Hirschhorn syndrome.
181. Unusual pathologic findings in a girl with Wolf-Hirschhorn syndrome, del (4p).
182. Deletion of Huntington's disease-linked G8 (D4S10) locus in Wolf-Hirschhorn syndrome.
183. A complex structural rearrangement of chromosome 4 in a woman without phenotypic features of Wolf-Hirschhorn syndrome.
184. Wolf-Hirschhorn syndrome owing to 1:3 segregation of a maternal 4;21 translocation.
185. [Wolf-Hirschhorn syndrome].
186. The Wolf-Hirschhorn syndrome. New endocrine data.
187. [Wolf-Hirschhorn-syndrome with high urinary level of heparan sulfate (author's transl)].
188. Genetic and clinical studies in 13 patients with the Wolf-Hirschhorn syndrome [del(4p)].
189. 4p- (Wolf-Hirschhorn) syndrome.
190. The Wolf-Hirschhorn syndrome. II. Pathologic anatomy.
191. The Wolf-Hirschhorn syndrome. I. Genetics.
192. The Wolf-Hirschhorn syndrome. Deletion of the short arm of chromosome 4.
193. On the deletion 4p16 Wolf-Hirschhorn syndrome.
194. [Pathologic anatomy of the Wolf-Hirschhorn syndrome (partial monosomy 4p--)].
195. Ophthalmic features of chromosome deletion 4p- (Wolf-Hirschhorn syndrome).
196. Wolf-Hirschhorn syndrome and balanced (4;10) translocation in the father.
197. Wolf-Hirschhorn syndrome.
198. Wolf-Hirschhorn syndrome associated with an unusual abnormality of chromosome no. 4.