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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.
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.
Prenatal diagnosis of partial trisomy 21 associated with maternal balanced translocation 46xx der 21 t(21q;22q) with pericentric inversion of chromosome 9.  [cached]
Parmar R,Sira P
Journal of Postgraduate Medicine , 2003,
Abstract: This communication reports prenatal diagnosis of partial trisomy 21 resulting from balanced translocation (21q;22q) in a 36-year-old gravida 7, para 1 woman. The lady had only one living child and there was history of recurrent spontaneous first trimester abortions. Triple test was abnormal in the present conception. In addition, the woman had pericentric inversion of chromosome 9, a finding scarcely reported previously with carrier status in Indian literature. A few cytogeneticists consider this as a normal variant. However, many reports in the recent literature link pericentric inversion of chromosome 9 with infertility, recurrent abortions and a number of other abnormal conditions. A review of the relevant literature pertinent to the case is provided.
The influence of pericentric inversion in 10th chromosome on aggressive behavior and hyperactivity  [cached]
Nilgun Tanriverdi,Ayfer Pazarbasi,Dilara Karahan,Ayse Avci
Cukurova Medical Journal , 2013,
Abstract: Aggressive behavior and hyperactivity are neurodevelopmental diseases with unknown pathogenesis. Pericentric inv(10)(p11.2;q21.2) mutation is frequently encountered in cytogenetic laboratories. This mutation is accepted as a polymorphic variant and is phenotypically silent, but in some cases it has been associated with neurodevelopmental diseases like autism. After blood culturing, standard chromosome obtaining procedure was applied to patients. In this study, clinical and cytogenetical findings of a boy with developmental delay, mental and motor retardation, attention deficit and hyperactivity have been reported. As a result of chromosome analysis, on chromosome 10, a large pericentric inversion between p11.1 and q22.q bands has been found. Karyotype analysis was also performed to mother, father and siblings of the patient and they have been found to have normal karyotype. It is plausible to consider a relation between inv(10) and some behavioral problems. Additionally, molecular studies targeting 10p-q critical region will be more informative for the true identification of this disease. [Cukurova Med J 2013; 38(1.000): 108-113]
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
Analphoid supernumerary marker chromosome characterized by aCGH and FISH as inv dup(3)(q25.33qter) de novo in a child with dysmorphic features and streaky pigmentation: case report
Sabita K Murthy, Ashok K Malhotra, Preenu S Jacob, Sehba Naveed, Eman EM Al-Rowaished, Sara Mani, Shabeer Padariyakam, R Pramathan, Ravi Nath, Mahmoud Al-Ali, Lihadh Al-Gazali
Molecular Cytogenetics , 2008, DOI: 10.1186/1755-8166-1-19
Abstract: We describe here a one month old female child with several dysmorphic features and with a de novo analphoid supernumerary marker chromosome only in cultured skin fibroblast cells and not in lymphocytes. The marker was characterized as analphoid inversion-duplication 3q25.33-qter by oligo array comparative genomic hybridization (aCGH) and fluorescence in situ hybridization (FISH) studies. The final skin fibroblast karyotype was interpreted as 47,XX,+der(3).ish inv dup(3)(qter-q25.33::q25.33-qter)(subtel 3q+,subtel 3q+) de novo.In addition to the eight reported cases of analphoid inversion-duplication 3q supernumerary marker in the literature, this is yet another case of 3q sSMC with a new breakpoint at 3q25.33 and with varying phenotype as described in the case report. Identification of more and more similar cases of analphoid inversion-duplication 3q marker will help in establishing a better genotype-phenotype correlation. The study further demonstrates that aCGH in conjunction with routine cytogenetics and FISH is very useful in precisely identifying and characterizing a marker chromosome, and more importantly help in providing with an accurate genetic diagnosis and better counseling to the family.Small supernumerary marker chromosomes occur in 0.075% of unselected prenatal cases and in 0.044% of consecutively studied postnatal cases, and majority of them are de novo in origin [1-4]. Phenotype of individuals with de novo sSMC vary from normal to extremely mild or severe, depending on the chromosomal region involved and the euchromatic content present [5-7]. Although a number of reports describe the occurrence of a variety of sSMC for nearly all the chromosomes, the number for each type is not large enough to suggest a good genotype-phenotype correlation for a given sSMC, except for inv dup(15) and inv dup(22) where the phenotypic consequences are well described [6,8-10]. We describe here the phenotype and corresponding molecular cytogenetic results of a child with
Complex chromosome rearrangement in a child with microcephaly, dysmorphic facial features and mosaicism for a terminal deletion del(18)(q21.32-qter) investigated by FISH and array-CGH: Case report
Emmanouil Manolakos, Nadezda Kosyakova, Loreta Thomaidis, Rozita Neroutsou, Anja Weise, Markos Mihalatos, Sandro Orru, Haris Kokotas, George Kitsos, Thomas Liehr, Michael B Petersen
Molecular Cytogenetics , 2008, DOI: 10.1186/1755-8166-1-24
Abstract: Cases involving partial deletions or duplications of chromosome 18 are well documented in the literature. The 18q- syndrome constitutes one of the frequent autosomal deletion syndromes in man, with more than 100 patients reported [1]. The syndrome includes moderate intrauterine growth retardation, moderate mental retardation, and a specific pattern of dysmorphisms and anomalies [1]. Mosaicism for a deleted chromosome 18 has been described in a few patients with mostly the full clinical picture of the 18q- syndrome. Here, we report a patient with an unusual mosaic karyotype consisting of cells with normal karyotype and others with a terminal deletion of one chromosome 18 and the other chromosome 18 having an interstitial duplication.The patient, a 7-year-old boy, was the second child of unrelated, healthy parents. He was born with cesarean section after a full term pregnancy. His birth weight was 2,850 kg, length 45 cm and head circumference (HC) 32 cm. His perinatal period was uneventful. His developmental milestones were delayed as he sat independently at the age of 13 months and walked at the age of 27 months. His first words were spoken at the age of 2 years and 5 months.He was a sociable child, with microcephaly (HC = 50.5 cm, 2nd percentile), and dysmorphic facial features such as: maxillary hypoplasia, epicanthal folds, upslanting palpebral fissures, long eyelashes, and hypertelorism. His ears were prominent and dysmorphic and he had a high arched palate. His weight was 17 kg (25th percentile) and his height 120 cm (50th percentile).His non-verbal skills were equivalent to a 4 years and 4 months level and his language skills were equivalent to a 30 months level. According to Griffiths Scales Bailey's Scales of Mental Development (2nd Edition), his General Developmental Quotient (GDQ) was 52 with Performance DQ = 59 and Language DQ = 45. His behavior was normal for his developmental age. He was severely hypertonic but without asymmetry.Heart auscultation was no
A pericentric inversion of chromosome 4 in pigs
A Ducos, A Pinton, A Séguéla, HM Berland, MF Blanc, A Darré, P Pinton, M Yerle, R Darré
Genetics Selection Evolution , 1997, DOI: 10.1186/1297-9686-29-3-383
Abstract:
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