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Focal cortical dysplasia and pericentric inversion of chromosome 9: a case report
Giancarlo DI GENNARO,Addolorata MASCIA,Liliana G. GRAMMALDO,Fabio SEBASTIANO
Journal of Neurological Sciences , 2004,
Abstract: A child affected by multiple dysmorphisms and behavioral disorders with pericentric inversion on chromosome 9 [46 XY inv 9 (p11q11)] is reported. In this patient, a focal cortical dysplasia in right temporal lobe was observed on magnetic resonance imaging of the brain. To our knowledge, this report is the first description of focal cortical dysplasia in a patient of an occidental country with pericentric inversion of chromosome. 9. The relationship between alterations localised on chromosome 9 and cerebral cortical organisation disorders is discussed.
A Dysmorphic Child with a Pericentric Inversion of Chromosome 8
Venkateshwari Ananthapur,Srilekha Avvari,Sujatha Madireddi,Pratibha Nallari,Jyothy Akka
Case Reports in Pediatrics , 2012, DOI: 10.1155/2012/813963
Abstract: An 8-year-old boy was referred to our institute with dysmorphic features such as mild lupus, micrognathia, low hair line, hypoplasia, hemi atrophy of left side of the face, abnormal size of ears, hypothenar, hypoplasia of chin, and tongue tie. MRI scan was found to be normal and EEG suggestive of generalized seizure disorder. Cytogenetic evaluation of the proband revealed a pericentric inversion of chromosome 8 with 46, XY, and inv 8 (p11.2; q21.2) karyotype.
A Dysmorphic Child with a Pericentric Inversion of Chromosome 8  [PDF]
Venkateshwari Ananthapur,Srilekha Avvari,Sujatha Madireddi,Pratibha Nallari,Jyothy Akka
Case Reports in Pediatrics , 2012, DOI: 10.1155/2012/813963
Abstract: An 8-year-old boy was referred to our institute with dysmorphic features such as mild lupus, micrognathia, low hair line, hypoplasia, hemi atrophy of left side of the face, abnormal size of ears, hypothenar, hypoplasia of chin, and tongue tie. MRI scan was found to be normal and EEG suggestive of generalized seizure disorder. Cytogenetic evaluation of the proband revealed a pericentric inversion of chromosome 8 with 46, XY, and inv 8 (p11.2; q21.2) karyotype. 1. Introduction Pericentric inversions are among the frequent chromosomal rearrangements associated with genetic disorders with a frequency of 1-2% [1, 2]. Pericentric inversions result from a two-break event which occurs between the short (p) and the long arms (q) within the chromosome followed by a 180° rotation of the intercalary segment. The phenotype of the inversion carrier depends on the type of inversion, size of the inverted part, and the chromosome involved [3]. In this report, we describe the distinct clinical phenotype and the karyotype of a boy with dysmorphic facial features and mild mental retardation associated with a pericentric inversion of chromosome 8. 2. Case Report An 8-year-old male child with dysmorphic facies and mild mental retardation was referred to the Institute of Genetics, Hyderabad for cytogenetic evaluation. He was born after full term as the third child in the sibship of nonconsanguineous parents. He had delayed developmental milestones, neck holding at the age of 5 months, walking independently at the age of 2 years and 5 months, and started speech at the age of 3 years and 5 months. The dysmorphic facial features included mild lupeus, micrognathia, low-hair line, hypoplasia, hemiatrophy of left side of the face, abnormal size of ears, hypothenar, hypoplasia of chin, and tongue tie. His external genitalia were normal. Psychological evaluation of the child was carried out using Senguin form board and Vineland Social maturity physical examination scale [4]. The intelligent quotient was found to be 64 indicative of mild mental retardation. MRI Scan report of the propositus was normal, but his EEG study was suggestive of generalized seizure disorder. He had hyperactive behavior with slurred speech. It is informed that the boy was frightened by loud sounds and is presently attending a special school. Chromosomal analysis of peripheral blood lymphocytes was performed using GTG banding for the propositus and their parents [5, 6]. A rearranged chromosome was observed in the propositus with pericentric inversion of chromosome 8 with break point at p 11.2 and q 21.2 regions
Refinement of a chimpanzee pericentric inversion breakpoint to a segmental duplication cluster
Devin P Locke, Nicoletta Archidiacono, Doriana Misceo, Maria Cardone, Stephane Deschamps, Bruce Roe, Mariano Rocchi, Evan E Eichler
Genome Biology , 2003, DOI: 10.1186/gb-2003-4-8-r50
Abstract: Here we employed a comparative fluorescence in situ hybridization approach, using probes selected from a combination of physical mapping, genomic sequence, and segmental duplication analyses to narrow the breakpoint interval of a pericentric inversion in chimpanzee involving the orthologous human 15q11-q13 region. We have refined the inversion breakpoint of this chimpanzee-specific rearrangement to a 600 kilobase (kb) interval of the human genome consisting of entirely duplicated material. Detailed analysis of the underlying sequence indicated that this region comprises multiple segmental duplications, including a previously characterized duplication of the alpha7 neuronal nicotinic acetylcholine receptor subunit gene (CHRNA7) in 15q13.3 and several Golgin-linked-to-PML, or LCR15, duplications.We conclude that, on the basis of experimental data excluding the CHRNA7 duplicon as the site of inversion, and sequence analysis of regional duplications, the most likely rearrangement site is within a GLP/LCR15 duplicon. This study further exemplifies the genomic plasticity due to the presence of segmental duplications and highlights their importance for a complete understanding of genome evolution.The karyotypes of humans and the African and Asian great apes are remarkably well conserved, with relatively few large-scale chromosomal changes among these species despite the considerable phenotypic and biological differences between hominoids [1-3]. This conservation is particularly relevant in comparisons between the human (Homo sapiens; HSA) and common chimpanzee (Pan troglodytes; PTR) genomes, for in order to completely ascertain the evolution of our own lineage it is necessary to understand what differentiates us at the genomic level from our closest relatives. Furthermore, insight into the mechanism(s) underlying primate chromosomal evolution can be obtained from the molecular characterization of species-specific rearrangement breakpoints. Recent analyses of synteny disrup
Pericentric inversion of chromosome 9[inv(9)(p12q13)]: Its association with genetic diseases  [cached]
Rao Babu,Kerketta Lily,Korgaonkar Seema,Ghosh Kanjaksha
Indian Journal of Human Genetics , 2006,
Abstract: Background: The chromosomal polymorphism of short arms of acrocentric chromosomes and heterochromatin variation of Chromosomes 1, 9, 16 and Y have been reported in humans. The pericentric inversion of Chromosome 9 is commonly seen in normal humans and the frequency estimated to be 1 to 3% in general population and inherited in mendalian fashion or might occur spontaneously without any clinical significance. Aim: The aim of the study was to study the frequency of inv(9) and its clinical correlation with human genetic diseases. Materials and Methods:0 The chromosomal analysis using GTG-banding was carried out in 3,392 cases suspected with genetic diseases. Results: The pericentric inversion frequency of different chromosomes in our study was 1.24% and frequency of inv(9)(p12q13) was high (64.29%) compared to other pericentric inversions in our study. A high frequency (9.33%) of inv(9)(p12q13) was detected in children with dysmorphic features and congenital anomalies. Conclusion: As a high frequency of inv(9)(p12q13) detected in children with dysmorphic features, the inv(9) definitely have a role in the abnormal phenotype development. During inversion event there might be loss or suppression of euchromatin chromosome region and hence detailed chromosomal break point study is important to understand the clinical significance of the pericentric inversion of Chromosome 9.
A Rare Case of Pericentric Inversion, Inv (21) (p12;q22) in Repeated Pregnancy Loss: A Case Report
Naeimeh Tayebi,Hossain Khodaei
Oman Medical Journal , 2011,
Abstract: Pericentric inversions are among the most frequent chromosomal rearrangements with a frequency of 1-2 20There is no phenotypic effect in the majority of pericentric inversion heterozygote carriers, when it is a balanced rearrangement. However, miscarriages, infertility and/or chromosomally unbalanced offspring can be observed in carriers of a pericentric inversion. This is a case of pericentric inversion of one chromosome 21: inv (21) (p12; q22) in repeated pregnancy loss. A couple was referred for cytogenetic examination due to idiopathic miscarriages. The proband proved to be a carrier of chromosomal inversion and her partner’s karyotype was found to be normal. The karyotype of the proband is 46, xx, inv (21) (p12; q22). This abnormal karyotype is reported as a probable reason of miscarriage in the investigated couple. The risk of further miscarriages and the risk of a progeny with abnormal karyotype are rather high. Therefore, amniocenthesis for finding the chromosomal abnormality as a prenatal diagnosis are proposed for the patient if future pregnancy does not lead to miscarriage.
Impact of pericentric inversion of Chromosome 9 [inv (9) (p11q12)] on infertility  [cached]
Mozdarani Hossein,Meybodi Anahita,Karimi Hamideh
Indian Journal of Human Genetics , 2007,
Abstract: Background : One of the frequent occurrences in chromosome rearrangements is pericentric inversion of the Chromosome 9; inv (9) (p11q12), which is consider to be the variant of normal karyotype. Although it seems not to correlate with abnormal phenotypes, there have been many controversial reports indicating that it may lead to abnormal clinical conditions such as infertility. The incidence is found to be about 1.98% in the general population. Materials and Methods : We investigated the karyotypes of 300 infertile couples (600 individuals) being referred to our infertility clinic using standard GTG banding for karyotype preparation. Results : The chromosomal analysis revealed a total of 15 (2.5%) inversions, among these, 14 male patients were inversion 9 carriers (4.69%) while one female patient was affected (0.33%). The incidence of inversion 9 in male patients is significantly higher than that of normal population and even than that of female patients (P< 0.05). Conclusions : This result suggests that inversion 9 may often cause infertility in men due to spermatogenic disturbances, which are arisen by the loops or acentric fragments formed in meiosis.
9号染色体臂间倒位21例分析 Analyses in 21 Cases of Pericentric Inversion of Chromosome 9
李永全,郑克勤,周汝滨,潘超仁,廖霞,陈小萍LI Yong-quan,ZHENG Ke-qin,ZHOU Ru-bin,PAN Chao-ren,LIAO Xia,CHEN Xiao-ping
遗传 , 1999,
Abstract: 在2 703例遗传咨询门诊病例中检出9号染色体臂间倒位21例,将本组inv(9)的频率与普通群体inv(9)的频率作比较,并通过对伴有其它性状的inv(9)家系的分析,讨论了inv(9)的遗传效应问题。 Abstract: Twenty one cases of pericentric inversion of chromosome 9 were found in 2703 patients asking genetic counseling. The percentage of inv(9) in this group was compared with that in normal population. Two special pedigrees with inv(9) were analyzed and the genetic effects of inv(9) were discussed.
Recombinant Chromosome 4 from a Familial Pericentric Inversion: Prenatal and Adulthood Wolf-Hirschhorn Phenotypes  [PDF]
Francesca Malvestiti,Francesco Benedicenti,Simona De Toffol,Sara Chinetti,Adelheid H?ller,Beatrice Grimi,Gertrud Fichtel,Monica Braghetto,Cristina Agrati,Eleonora Bonaparte,Federico Maggi,Giuseppe Simoni,Francesca Romana Grati
Case Reports in Genetics , 2013, DOI: 10.1155/2013/306098
Abstract: Pericentric inversion of chromosome 4 can give rise to recombinant chromosomes by duplication or deletion of 4p. We report on a familial case of Wolf-Hirschhorn Syndrome characterized by GTG-banding karyotypes, FISH, and array CGH analysis, caused by a recombinant chromosome 4 with terminal 4p16.3 deletion and terminal 4q35.2 duplication. This is an aneusomy due to a recombination which occurred during the meiosis of heterozygote carrier of cryptic pericentric inversion. We also describe the adulthood and prenatal phenotypes associated with the recombinant chromosome 4. 1. Introduction Wolf-Hirschhorn Syndrome (WHS) results from partial deletion of the distal short arm of chromosome 4 (4p16.3). The clinical features are variable, with increasing severity depending on the extent of the deletion, although the minimal diagnostic criteria should include the association of typical facial appearance, growth delay, mental retardation, and seizures [1]. Considering that small and large 4p16.3 deletions are associated with mild and severe WHS phenotype, respectively, Zollino et al. [1] have suggested a WHS classification in three categories based on the clinical presentation, all sharing the minimal diagnostic criteria: “mild” form (deletions < 3.5?Mb) refers to patients with a mild mental retardation (MR), possible fluent language, and usually independent walking by the age of 2-3 years; “classical” form (deletions 5–18?Mb) is characterized by major malformations, severe psychomotor delay (PMD), delay or absence of speech, and late walking; “severe” one (deletions > 22–25?Mb) has severe PMD and MR, facial anomalies, severe scoliosis, and psychotic behaviour. At a molecular level, two WHS critical regions (WHSCRs) have been identified: the WHSCR region, which is 165?Kb in size and it is located at about 2?Mb from the telomere between the markers D4S166 and D4S3327 [2], and the WHSCR-2 region which embraces a 300–600?Kb interval between the loci D4S3327 and D4S168 and it is mapped distal to WHSCR at about 1,9?Mb from the telomere [1]. Most of the 4p16 deletions involved in WHS occur de novo, but in 10%–15% of cases the derivative chromosome 4 originate from chromosomal rearrangements in one of the parents. Four different rearrangements are reported [1]: (1) isolated 4p deletion (70% of patients); (2) unbalanced translocation (22%); (3) inverted duplication associated with terminal 4p deletion (6%); (4) recombinant chromosome 4, rec(4), consisting of unbalanced pericentric inversion with a large 4q segment duplicated on the deleted 4p (2%). Herein we describe a
Study of Thyroid Function in Children with Attention Deficit Hyperactivity Disorder and Aggressive Behavior
F El Baz, RT Hamza, MAS El-Din, MA Hassan
Egyptian Journal of Medical Human Genetics , 2008,
Abstract: Background: Attention deficit hyperactivity disorder (ADHD) is a well recognized psychiatric disorder of childhood. Its cause is unknown, but there is evidence of familial predisposition. Symptoms suggestive of the disorder have been reported in patients with generalized resistance to thyroid hormones (GRTH), a disease caused by a mutation in the thyroid receptor beta gene and characterized by reduced responsiveness of peripheral and pituitary tissues to thyroid hormone actions. Aim of the Work: This study was conducted to assess the frequency of thyroid hormone abnormalities in children with ADHD and/or aggressive behavior and to relate these abnormalities to the type of behavioral disorder. Patient and Methods: Thirty cases with behavioral disorders (ADHD and/or aggression) diagnosed by DSM-IV classification were studied in comparison to 10 age-and sex-matched healthy controls. Clinical examination and psychiatric evaluation including IQ and psychosocial assessment were done to all patients. Measurement of serum free triiodothyronine (fT3), free tetraiodothyronine (fT4) and thyrotropin (TSH) was done to cases and controls. Results: There was a significantly lower IQ (p<0.05) among patients (84.2±16.4%) when compared to controls (100.9±5.4%). Significantly higher mean fT3 and TSH levels (p<0.05) were detected among cases (5.96±2.9 pg/ ml and 6.53±3.2 uIU/ml respectively) when compared to controls (2.96±0.82 pg/ml and 2.28±1.28 uIU/ml respectively) while a non significant difference (p>0.05) in the fT4 level was detected. Twelve out of our 30 studied cases (40%) had thyroid hormone resistance among whom 7 (23.3%) had high fT3 and high TSH levels while 5 (16.7%) had high fT3 and normal TSH. Among the ADHD group, 3/16 (18.8%) had high fT3 and high TSH levels and 1/16 (6.3%) had high fT3 and normal TSH levels. Among those with aggression, 2/8 (25%) had high fT3 and high TSH and a similar percentage had high fT3 and normal TSH. Among those with both ADHD and aggression, 2/6 (33.3%) had high fT3 and high TSH and a similar percentage had high fT3 and normal TSH. In the 3 groups of behavioral disorders, none of the cases had high fT4 levels above the age-matched controls. Conclusion: A significant number of patients meeting the diagnostic criteria for ADHD have associated RTH. Therefore, measurement of TSH and fT3 should be incorporated in the work up of children in families having ADHD and/or aggression. In children with ADHD and concomitant RTH, particularly those who exhibit hyperactivity, liothyronine (L-T3) in supraphysiological doses could be beneficial in reducing hyperactivity and impulsivity and thus decreasing the need for psychostimulants. Further studies are warranted regarding the role of RTH in the pathophysiology of ADHD.
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