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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
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
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.
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.
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]
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.
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.
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.
Comparative chromosome G-banding analysis of long-tailed macaque (Macaca fascicularis) and relationship to human (Homo sapiens)
Alongkoad Tanomtong,Sumpars Khunsook,Wiwat Kaensa
Songklanakarin Journal of Science and Technology , 2007,
Abstract: This research is the first report of the comparative chromosome between long-tailed macaque (Macaca fascicularis) and human (Homo sapiens) using G-banding. Blood samples from four male and three female macaques were used. Their chromosomes were prepared using lymphocyte cultures at 37oC, 72 hours and detected using G-banding. The results showed the diploid chromosome number of 42, 18 metacentric and 22 submetacentric chromosomes. The satellite chromosome was on the short arm of chromosome 13. The X chromosome was a medium submetacentric and the Y was the smallest telocentric chromosome. By using G-banding, the macaque chromosome 5, 12, 13, 19 and X are identical to those of humans. The short arm and long arm of chromosome 13 of macaque were similar to chromosome 22 and 15 of human respectively. We indicate that macaque chromosome was split to two human chromosomes. The macaque and human chromosomes 1, 3, 6-11, 14, 17 and 20 were relatively similar. The macaque and human chromosome 1 is a pericentric inversion chromosome, indicating that the alternative construction of the chromosome cooperates with the centomere. There were 6 macaque chromosomes which were from different human, 2, 4, 15, 16, 18 and Y. All results demonstrate that the long-tailed macaque and human have are evolutionary relationship.
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