共查询到20条相似文献,搜索用时 15 毫秒
1.
2.
Sarri C Gyftodimou Y Grigoriadou M Pandelia E Kalogirou S Kokotas H Mrasek K Weise A Petersen MB 《Cytogenetic and genome research》2006,114(3-4):330-337
We describe a female patient with a small supernumerary marker chromosome (sSMC) present in mosaic and characterized in detail by fluorescence in situ hybridization (FISH) using all 24 human whole chromosome painting probes, multicolor banding (MCB) and subcentromere specific multicolor FISH (subcenM-FISH). The sSMC was demonstrated to be derived from chromosome 5 and the karyotype of our patient was as follows: 47,XX,+mar.ish r(5)(::p13.2 approximately p13.3-->q11.2::) [60%]/46,XX [40%]. Partial trisomy for the proximal 5p and q chromosomal regions is a rare event. A critical region exists at 5p13 for the phenotype associated with duplication 5p. As far as we know, eight similar cases have been published up to now. We describe a new case which, to our knowledge, is the first characterized in such detail. The role of uniparental disomy (UPD) in cases of SMC is also discussed. 相似文献
3.
Chistiakov DA Voronova NV Turakulov RI Savost'anov KV 《Journal of applied genetics》2011,52(2):201-207
The human secretoglobin 3A2 (SCGB3A2) gene encoding secretory uteroglobin-related protein 1 (UGRP1) resides on the chromosome region 5q31-33 that harbors a susceptibility
locus to several autoimmune and inflammatory diseases, including asthma and Graves’ disease (GD). Recently, association between
the marker rs1368408 (−112G > A), located in the promoter region of the SCGB3A2 gene, and susceptibility to GD was found in Chinese and UK Caucasians. The study aim was to evaluate whether this polymorphism
confers GD susceptibility in a large population cohort comprising 1,474 Russian GD patients and 1,619 controls. The marker
rs1368408 was studied using a TaqMan allele discrimination assay. Serum levels of UGRP1 and immunoglobulin E (IgE) were assessed
using enzyme-linked immunosorbent assay (ELISA) analyses. Association between the allele A of SCGB3A2 and a higher risk of GD (odds ratio [OR] = 1.33, P = 2.9 × 10−5) was shown. Both affected and non-affected carriers of the higher risk genotype A/A had significantly decreased levels of
serum UGRP1 compared to the subjects homozygous for G/G (93 ± 37 pg/ml vs. 132 ± 45 pg/ml, P = 0.0011 for GD patients; 77 ± 28 pg/ml vs. 119 ± 33 pg/ml, P = 0.0019 for controls). Serum IgE levels were significantly higher in non-affected subjects homozygous for A/A compared to
control individuals homozygous for G/G (153 ± 46 IU/ml vs. 122 ± 40 IU/ml, P = 0.0095). Our data suggest that the carriage of the SCGB3A2 −112A/A variant increases the risk for GD in subsets of patients with elevated levels of IgE, a hallmark of allergic asthma.
Therefore, the SCGB3A2 −112G > A polymorphism may be considered as a likely marker linking susceptibility to allergy/asthma and GD on chromosome
5q31-33. 相似文献
4.
Elena S. Gusareva Helena Havelková Hana Blažková Marcela Kosařová Petr Kučera Vlastimil Král Daria Salyakina Bertram Müller-Myhsok Marie Lipoldová 《Immunogenetics》2009,61(1):15-25
Atopy is a predisposition to hyperproduction of immunoglobulin E (IgE) against common environmental allergens. It is often
associated with development of allergic diseases such as asthma, rhinitis, and dermatitis. Production of IgE is influenced
by genetic and environmental factors. In spite of progress in the study of heredity of atopy, the genetic mechanisms of IgE
regulation have not yet been completely elucidated. The analysis of complex traits can benefit considerably from integration
of human and mouse genetics. Previously, we mapped a mouse IgE-controlling locus Lmr9 on chromosome 4 to a segment of <9 Mb. In this study, we tested levels of total IgE and 25 specific IgEs against inhalant
and food allergens in 67 Czech atopic families. In the position homologous to Lmr9 on chromosome 8q12 marked by D8S285, we demonstrated a novel human IgE-controlling locus exhibiting suggestive linkage to
composite inhalant allergic sensitization (limit of detection, LOD = 2.11, P = 0.0009) and to nine specific IgEs, with maximum LOD (LOD = 2.42, P = 0.0004) to plantain. We also tested 16 markers at previously reported chromosomal regions of atopy. Linkage to plant allergens
exceeding the LOD > 2.0 was detected at 5q33 (D5S1507, LOD = 2.11, P = 0.0009) and 13q14 (D13S165, LOD = 2.74, P = 0.0002). The significant association with plant allergens (quantitative and discrete traits) was found at 7p14 (D7S2250,
corrected P = 0.026) and 12q13 (D12S1298, corrected P = 0.043). Thus, the finding of linkage on chromosome 8q12 shows precision and predictive power of mouse models in the investigation
of complex traits in humans. Our results also confirm the role of loci at 5q33, 7p14, 12q14, and 13q13 in control of IgE.
Electronic supplementary material The online version of this article (doi:) contains supplementary material, which is available to authorized users. 相似文献
5.
The most common isochromosome found in humans involves the long arm of the X, i(Xq), and is associated with a subset of Turner
syndrome cases. To study the formation and behavior of isochromosomes in a more tractable experimental system, we have developed
a somatic cell hybrid model system that allows for the selection of mono- or dicentric isochromosomes involving the short
arm of the X, i(Xp). Simultaneous positive and negative counterselection of a mouse/human somatic cell hybrid containing a
human X chromosome, selecting for retention of the UBE1 locus in Xp but against the HPRT locus in Xq, results in a variety of abnormalities of the X chromosome involving deletions of Xq. We have generated 70 such
”Pushmi-Pullyu” hybrids derived from seven independent X chromosomes. Cytogenetic analysis of these hybrids using fluorescence
in situ hybridization showed i(Xp) chromosomes in ∼19% of the hybrids. Southern blot and polymerase chain reaction analyses
of the Pushmi-Pullyu hybrids revealed a distribution of breakpoints along Xq. The distance between the centromeres of the
dicentric i(Xp)s generated ranged from ∼2 Mb to ∼20 Mb. To examine centromeric activity in these dicentric i(Xp)s, we used
indirect immunofluorescence with antibodies to centromere protein E (CENP-E). CENP-E was detected at only one of the centromeres
of a dicentric i(Xp) with ∼2–3 Mb of Xq DNA. In contrast, CENP-E was detected at both centromeres of a dicentric i(Xp) with
∼14 Mb of Xq DNA. Two other dicentric i(Xp) chromosomes were heterogeneous with respect to centromeric activity, suggesting
that centromeric activity and chromosome stability of dicentric chromosomes may be more complicated than previously thought.
The Pushmi-Pullyu model system presented in this study may provide a tool for examining the structure and function of mammalian
centromeres.
Received: 15 December 1998; in revised form: 2 March 1999 / Accepted: 5 April 1999 相似文献
6.
Liehr T Mrasek K Starke H Claussen U Schreiber G 《Cytogenetic and genome research》2005,111(2):179-181
Small supernumerary marker chromosomes (sSMC) are small additional chromosomes characterizable for their origin only by molecular cytogenetic approaches. sSMC have been reported previously in four types of syndromes associated with chromosomal imbalances: in approximately 150 cases with Turner syndrome, 26 cases with Down syndrome and only one case each with Klinefelter syndrome and "Triple-X"-syndrome. Here we report the second case with an sSMC detected in addition to a Klinefelter karyotype. Molecular cytogenetics applying centromere-specific multicolor FISH (cenM-FISH) and a specific subcentromere-specific (subcenM-FISH) probe set characterized the sSMC as a dic(9)(:p12-->q11.1::q11.1--> p11.1:). The reported patient was described with hypogonadism, gynaecomastia plus a bronchial carcinoma. The patient's clinical features are discussed in connection with other Klinefelter cases and possible consequences of presence of the sSMC(9). Furthermore, a suggestion is made for the mode of sSMC-formation in this case. 相似文献
7.
Shaymaa Subhi Hussein Katharina Kreskowski Monika Ziegler Elisabeth Klein Ahmed B. Hamid Nadezda Kosyakova Marianne Volleth Thomas Liehr Xiaobo Fan Katja Piaszinski 《Gene》2014
Mosaicism is present in more than 50% of the cases with small supernumerary marker chromosomes (sSMCs) and karyotype 47,XX,+mar/46,XX or 47,XY,+mar/46,XY. Recently we provided first evidence that the mitotic stability of sSMC is dependent on their structure, i.e. their shape. Thus, here we performed a long term in vitro study on 12 selected cell lines from the Else Kröner–Fresenius-sSMC-cellbank (http://ssmc-tl.com/ekf-cellbank.html) to test mitotic sSMC stability systematically. The obtained results showed that inverted duplicated shaped and also the so-called complex sSMCs (group 1) are by far more stable, than centric-minute- or ring-shaped sSMCs (groups 2). Generally speaking, the percentage of cells with group-1-sSMCs remained stable over 90 days of cell culture, while that of group-2-sSMCs in parts dramatically decreased. In one group-2-cell line the sSMC was even lost completely after 30 days of in vitro culture, in others the sSMC was depleted in up to 40% of the cells. Still the highest rate of sSMC loss was recorded during EBV-transformation. Overall, the major difference between groups 1 and 2 was the number of telomeres per sSMC. In group 1 the sSMCs had “original” telomeres at both of their ends; in group 2 the sSMCs had either no, possibly secondary acquired and/or only one original telomere. This absence of protective telomeric sequences in group 2 seems to make sSMC more susceptible for loss during cell division. Still, also a growth advantage of cells without sSMC cannot be neglected entirely. 相似文献
8.
Shimogiri T Kiuchi S Hiraiwa H Hayashi T Takano Y Maeda Y Yasue H 《Animal genetics》2006,37(5):503-508
Twenty-two and eight significant quantitative trait loci for economically important traits have been located on porcine chromosomes (SSC) 2q and SSC16 respectively, both of which have been shown to correspond to human chromosome 5 (HSA5) by chromosome painting. To provide a comprehensive comparative map for efficient selection of candidate genes, we assigned 117 genes from HSA5 using a porcine radiation hybrid (IMpRH) panel. Sixty-six genes were assigned to SSC2 and 48 to SSC16. One gene was suggested to link to SSC2 markers and another to SSC6. One gene did not link to any gene, expressed sequence tag or marker in the map, including those in the present investigation. This study demonstrated the following: (1) SSC2q21-q28 corresponds to the region ranging from 74.0 to 148.2 Mb on HSA5q13-q32 and the region from 176.0 to 179.3 Mb on HSA5q35; (2) SSC16 corresponds to the region from 1.4 to 68.7 Mb on HSA5p-q13 and to the region from 150.4 to 169.1 Mb on HSA5q32-q35 and (3) the conserved synteny between HSA5 and SSC2q21-q28 is interrupted by at least two sites and the synteny between HSA5 and SSC16 is also interrupted by at least two sites. 相似文献
9.
Kristin Mrasek Heike Starke Thomas Liehr 《The journal of histochemistry and cytochemistry》2005,53(3):367-370
Here we report a prenatally detected small supernumerary marker chromosome (sSMC) derived from chromosome 2 as demonstrated by cenM-FISH (centromere-specific multicolor fluorescence in situ hybridization). By application of a recently described subcentromere-specific probe set (subcenM-FISH) for chromosome 2, the presence of a small partial trisomy due to a karyotype 47,XX,+r(2)(::p11.1->q11.2::) was demonstrated. Including this case, a total of 11 patients with sSMC(2) are described throughout the literature. Based on that data, a first genotype/phenotype correlation according to the size and structure of the marker is suggested. 相似文献
10.
Glass IA Rauen KA Chen E Parkes J Alberston DG Pinkel D Cotter PD 《Human genetics》2006,118(5):611-617
Ring chromosome 15 [r(15)] is an uncommon finding with less than 50 patients reported. Precise genotype–phenotype correlations
are problematic because of the difficulties in determining the extent of euchromatic loss, the level of mosaicism, and the
influence of the timing of ascertainment. We report two discordant examples of r(15) patients. In the first case, prenatal
diagnosis of a de novo r(15) was made during the second trimester: mos 46,XX,r(15)(p11.2q26)[32]/45,XX,-15[13]/47,XX,r(15)(p11.2q26)x2[3]/46,XX,dic
r(15)(p11.2q26p11.2q26[1]/46,XX[2]. Postnatal follow-up revealed extremely small stature, heart defects, and developmental
delay. Patient 2 was a 31-year-old short-statured female who was living independently: 46,XX,r(15)(p11q26). Both cases showed
loss of the 15q subtelomeric region by fluorescence in situ hybridization (FISH). To investigate the discordance in phenotypes
between the two patients, we undertook array comparative genomic hybridization (array CGH) analyses to more fully characterize
the deletions associated with these otherwise structurally indistinguishable r(15) chromosomes from conventional cytogenetic
analyses and fluorescence in situ hybridization (FISH) studies. By array CGH, patient 1 showed deletion of multiple contiguous
clones predicting an approximately 6 Mb deletion of distal 15q. In contrast, patient 2 showed loss of just the 15q subtelomeric
clone and an interstitial clone by array CGH confirming that the severity of the phenotype correlated with the size of the
deletion at the molecular level. These cases illustrate the utility of array CGH characterization for determining the size
of the associated deletion in ring chromosomes and for facilitating phenotype–genotype correlations. 相似文献
11.
We present prenatal diagnosis of mosaicism for a small supernumerary marker chromosome (sSMC) derived from chromosome 22 associated with cat eye syndrome (CES) using cultured amniocytes in a pregnancy with fetal microcephaly, intrauterine growth restriction, left renal hypoplasia, total anomalous pulmonary venous return with dominant right heart and right ear deformity. The sSMC was bisatellited and dicentric, and was characterized by multiplex ligation-dependent probe amplification (MLPA) and array comparative genomic hybridization (aCGH). The SALSA MLPA P250-B1 DiGeorge Probemix showed duplication of gene dosage in the CES region. aCGH showed a 1.26-Mb duplication at 22q11.1–q11.21 encompassing CECR1–CECR7. The sSMC was likely inv dup(22) (q11.21). Prenatal diagnosis of an sSMC(22) at amniocentesis should alert CES. MLPA, aCGH and fetal ultrasound are useful for rapid diagnosis of CES in case of prenatally detected sSMC(22). 相似文献
12.
Two yeast artificial chromosomes (YACs) containing genomic DNA from tomato have been isolated using CT220, an RFLP marker
which is tightly linked to the tomato spotted wilt virus resistance gene, Sw-5. High-resolution mapping of the YAC ends and internal YAC probes demonstrated that one of the YAC clones, TY257 (400 kb),
spans Sw-5. By chromosome walking in a cosmid library, the position of Sw-5 has been delimited within the YAC to a maximal chromosomal segment of 100 kb, spanned by nine overlapping cosmid clones.
Received: 13 March 1997 / Accepted: 11 may 1997 相似文献
13.
D. J. Wolff Karen M. Gustashaw Vickie Zurcher Lara Ko Wendy White Lester Weiss Daniel L. Van Dyke Stuart Schwartz Huntington F. Willard 《Human genetics》1997,100(2):256-262
High resolution cytogenetics, microsatellite marker analyses, and fluorescence in situ hybridization were used to define
Xq deletions encompassing the fragile X gene, FMR1, detected in individuals from two unrelated families. In Family 1, a 19-year-old
male had facial features consistent with fragile X syndrome; however, his profound mental and growth retardation, small testes,
and lover limb skeletal defects and contractures demonstrated a more severe phenotype, suggestive of a contiguous gene syndrome.
A cytogenetic deletion including Xq26.3–q27.3 was observed in the proband, his phenotypically normal mother, and his learning-disabled
non-dysmorphic sister. Methylation analyses at the FMR1 and androgen receptor loci indicated that the deleted X was inactive
in > 95% of his mother’s white blood cells and 80–85% of the sister’s leukocytes. The proximal breakpoint for the deletion
was approximately 10 Mb centromeric to FMR1, and the distal breakpoint mapped 1 Mb distal to FMR1. This deletion, encompassing
∼13 Mb of DNA, is the largest deletion including FMR1 reported to date. In the second family, a slightly smaller deletion
was detected. A female with moderate to severe mental retardation, seizures, and hypothyroidism, had a de novo cytogenetic
deletion extending from Xq26.3 to q27.3, which removed ∼12 Mb of DNA around the FMR1 gene. Cytogenetic and molecular data
revealed that ∼50% of her white blood cells contained an active deleted X. These findings indicate that males with deletions
including Xq26.3–q27.3 may exhibit a more severe phenotype than typical fragile X males, and females with similar deletions
may have an abnormal phenotype if the deleted X remains active in a significant proportion of the cells. Thus, important genes
for intellectual and neurological development, in addition to FMR1, may reside in Xq26.3–q27.3. One candidate gene in this
region, SOX3, is thought to be involved in neuronal development and its loss may partly explain the more severe phenotypes
of our patients.
Received: 19 December 1996 / Accepted: 13 March 1997 相似文献
14.
Jinliang Zhao Yang Cao Sifa Li Jiale Li Yanfei Deng Guoqing Lu 《Environmental Biology of Fishes》2011,90(1):85-93
Ample studies have been conducted to investigate the population genetic structure of grass carp Ctenopharyngodon idella in the Yangtze River, China. However, samples from the upper reaches were not included. In this study, we collected samples
from the entire river, including three locations in the upper reaches: Yibin, Banan and Yunyang, two locations in the middle
reaches: Shishou and Ruichang and one location in the lower reaches: Hanjiang, and sequenced three mitochondrial coding genes
(ND5, ND6 and Cytb) and one control region (i.e., the D-loop). Nineteen haplotypes were observed in grass carp of the Yangtze River through
the analysis of combined sequence data sets (around 4428 bp). Haplotype diversity indices (0.6000 ∼ 0.9333) and nucleotide
diversity indices (0.0002 ∼ 0.0020) demonstrated low genetic diversity in the Yangtze grass carp. The analysis of molecular
variance and the fixation index (F
ST = 0.0202) revealed insignificant genetic difference between samples from different reaches. Two monophyletic lineages of
haplotypes were identified, with the lineage A experiencing potential expansion events. Along with previous findings, this
study provides a better understanding of genetic diversity and variation of grass carp in the Yangtze River and will be served
as an important baseline to evaluate the long-term impact of the Three Gorges Dam and other hydroelectric facilities on fish
biodiversity. 相似文献
15.
Holger T?nnies Joanna Pietrzak Ewa Bocian Kay MacDermont Alma Kuechler Britta Belitz Udo Trautmann Angela Schmidt Berndt Schulze Laura Rodríguez Franz Binkert Catharine Yardin Nadezda Kosyakova Marianne Volleth Hasmik Mkrtchyan Isolde Schreyer Ferdinand von Eggeling Anja Weise Kristin Mrasek Thomas Liehr 《The journal of histochemistry and cytochemistry》2007,55(6):651-660
Sixteen newly established cell lines with small supernumerary marker chromosomes (sSMC) derived from chromosomes 1, 2, 4, 6, 7, 8, 14, 15, 16, 18, 19, 21, and 22 are reported. Two sSMC are neocentric and derived from 15q24.1-qter and 2q35-q36, respectively. Two further cases each present with two sSMC of different chromosomal origin. sSMC were characterized by multicolor fluorescence in situ hybridization for their chromosomal origin and genetic content. Moreover, uniparental disomy of the sister chromosomes of the sSMC was excluded in all nine cases studied for that reason. The 16 cases provide information to establish a refined genotype-phenotype correlation of sSMC and are available for future studies. 相似文献
16.
Malaysia is the world’s leading producer of palm oil products that contribute US$ 7.5 billion in export revenues. Like any
other agro-based industries, it generates waste that could be utilized as a source of organic nutrients for microalgae culture.
Present investigation delves upon Isochrysis sp. culture in POME modified medium and its utilization as a supplement to Nanochloropsis sp. in rotifer cultures. The culture conditions were optimized using a 1 L photobioreactor (Temp: 23°C, illumination: 180 ∼ 200 μmol
photons m−2s−1, n = 6) and scaled up to 10 L outdoor system (Temp: 26–29°C, illumination: 50 ∼ 180 μmol photons m−2s−1, n = 3). Algal growth rate in photobioreactor (μ = 0.0363 h−1) was 55% higher compared to outdoor culture (μ = 0.0163 h−1), but biomass production was 1.3 times higher in outdoor culture (Outdoor = 91.7 mg m−2d−1; Photobioreactor = 69 mg m−2d−1). Outdoor culture produced 18% higher lipid; while total fatty acids (FA) was not significantly affected by the change in
culture systems as both cultures yield almost similar concentrations of fatty acids per gram of sample (photobioreactor = 119.17 mg
g−1; outdoor culture = 104.50 mg g−1); however, outdoor cultured Isochrysis sp. had 26% more polyunsaturated fatty acids (PUFAs). Rotifers cultured in Isochrysis sp./ Nanochloropsis sp. (1:1, v/v) mixture gave similar growth rate as 100% Nanochoropsis sp. culture (μ = 0.40 d−1), but had 45% higher counts of rotifers with eggs (t = 7, maximum). The Isochrysis sp. culture successfully lowered the nitrate (46%) and orthophosphate (83%) during outdoor culture. 相似文献
17.
Ivana Zucchetti Rosaria De Santis Simona Grusea Pierre Pontarotti Louis Du Pasquier 《Immunogenetics》2009,61(6):463-481
Two selected receptor genes of the immunoglobulin superfamily (IgSF), one CTX/JAM family member, and one poliovirus receptor-like
nectin that have features of adhesion molecules can be expressed by Ciona hemocytes, the effectors of immunity. They can also be expressed in the nervous system (CTX/JAM) and in the ovary (nectin).
The genes encoding these receptors are located among one set of genes, spread over Ciona chromosomes 4 and 10, and containing other IgSF members homologous to those encoded by genes present in a tetrad of human
(1, 3 + X, 11, 21 + 19q) or bird chromosomes (1, 4, 24, 31) that include the leukocyte receptor complex. It is proposed that
this tetrad is due to the two rounds of duplication that affected a single prevertebrate ancestral region containing a primordial
leukocyte receptor complex involved in immunity and other developmental regulatory functions.
Electronic supplementary material The online version of this article (doi:) contains supplementary material, which is available to authorized users.
相似文献
Rosaria De Santis (Corresponding author)Email: |
18.
Rosane G. Collevatti Raquel Estolano Silmara F. Garcia John D. Hay 《Tree Genetics & Genomes》2009,6(4):555-564
We investigated pollen dispersal and breeding structure in the tropical tree species Caryocar brasiliense Camb. (Caryocaraceae), using genetic data from ten microsatellite loci. All adult trees (101) within a patch of 8.3 ha were
sampled, and from these adults 18 open-pollinated maternal progeny arrays were analyzed (280 seeds from 265 fruits). Most
fruits presented only one seed (median equal to 1.000) and mean number of ripened seeds per fruit was 1.053 (SD = 0.828).
Our results showed that C. brasiliense presents a mixed-mating system, with 11.4% of self-pollination, multilocus outcrossing rate of t
m = 0.891 ± 0.025, and high probability of full-sibship within progeny arrays (r
p = 0.135 ± 0.032). Outcrossing rate and self-pollination varied significantly among mother trees. We could detect a maximum
pollen dispersal distance of ∼500 m and a mean pollen dispersal distance of ∼132 m. However, most pollination events (80%)
occurred at distances less than 200 m. Our results also indicated that pollen dispersal is restricted to a neighborhood of
5.4 ha with rare events of immigration (∼1% N
e
m = 0.35). C. brasiliense also presents a significant but weak spatial genetic structure (Sp = 0.0116), and extension of pollen dispersal distance was greater than seed dispersal (N
b = 86.20 m). These results are most likely due to the foraging behavior of pollinators that may have limited flight range.
The highly within-population synchronous flowering, high population density, and clumped distribution reinforce pollinator
behavior and affect residence time leading to a short-distance pollen dispersal. 相似文献
19.
Astyanax scabripinnis specimens from four distinct populations in Brazil were studied with respect to their karyotype macrostructure, nucleolar
organizer regions, and 18S and 5S rRNA genes. The four populations showed a 2n = 50 chromosomes (3 M + 11 SM + 5 ST + 6 A pairs) and 1–2 B chromosomes. No chromosomal differentiations were observed between
sexes. Although a karyotypic diversity has been characterized in this fish group, the populations now analyzed presented the
same macrokaryotypic pattern. Chromosome mapping of 5S rDNA showed a total of eight sites located in four distinct chromosomal
pairs, with no apparent differences among populations. A comparative study on 18S rDNA locations and Ag-NORs showed some secondary
NOR sites that are not usually expressed in karyotypes and a probable differential NOR activity among populations. Correlations
between these data, environmental conditions and B chromosomes are discussed.
This revised version was published online in July 2006 with corrections to the Cover Date. 相似文献
20.
Unstable, gene-rich pericentric regions have been associated with various structural aberrations including small supernumerary marker chromosomes (sSMCs). We hereby report on a new sSMC derived from chromosome 14, generating trisomy 14pter → q12 in a child with severe neurodevelopmental delay. The patient featured facial dysmorphism, generalized hypotonia, transverse palmar creases, structural brain abnormality, and severe cognitive and motor impairment. Literature review indicated this to be a unique case of sSMC 14 which was only composed of pter → q12, and the phenotype secondary to duplications of the similar region partially overlaps with the phenotype reported in this study. The genetic analysis on our case helps to better delineate karyotype–phenotype correlations between proximal trisomy 14 and associated clinical phenomena, and we also propose that the involved chromosomal regions may contain dosage-sensitive genes which are important for the development. 相似文献