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1.
《European journal of medical genetics》2022,65(11):104596
We describe a 5-year-old girl who was diagnosed at birth with 18q de novo homogeneous deletion at G-banding karyotype. Her clinical condition, characterized by hypotonia, psychomotor retardation, short stature, deafness secondary to bilateral atresia of the external auditory canals, was in agreement with the 18q deletion syndrome though presence of coloboma of a single eye only suggested a mosaic condition as an unusual sign. By combining multiple technologies including array-CGH, FISH, and WGS, we found that the terminal deletion 18q21.32q23 (21 Mb) was in segmental mosaicism of the proximal region 18q21.31q21.32 (2.7 Mb), which showed a variable number of copies: one, two, or three, in 7, 41 and 55% of the cells respectively. Breakpoint junction analysis demonstrated the presence of an inv-dup del (18q) with a disomic segment of 4.7 kb between the inverted and non-inverted copies of the duplicated region 18q21.31q21.32. From these results, we propose that all three types of abnormal chr18 (the inv-dup del and the two 18q terminal deletions of different sizes) arisen from breaks in a dicentric mirror chromosome 18q, either in more than one embryo cell or from subsequent breaking-fusion-bridge cycles. The duplication region was with identical polymorphisms as in all non-recurrent inv-dup del rearrangements though, in contrast with most of them, the 18q abnormality was of maternal origin. Taking into account that distal 18q deletions are not rarely associated with inv-dup del(18q) cell lines, and that the non-disjunction of chromosome 18 takes place especially at maternal meiosis II rather than meiosis I, multiple rescue events starting from trisomic zygotes could be considered alternative to the postmitotic ones. From the clinical point of view, our case, as well as those of del(18q) in mosaic with the dic(18q), shows that the final phenotype is the sum of the different cell lines that acted on embryonic development with signs typical of both the 18q deletion syndrome and trisomy 18. Asymmetrical malformations, such as coloboma of the iris only in the right eye, confirm the underlying mosaicism regardless of whether it is still detectable in the blood. 相似文献
2.
Patricia Davis Ghidoni Daniel E. Hale Jannine D. Cody Charles T. Gay Nora M. Thompson Erin B. McClure Mark M. Danney Robin J. Leach Celia I. Kaye 《American journal of medical genetics. Part A》1997,69(1):7-12
The 18q- syndrome is one of the commonest deletion syndromes. Clinical characteristics are variable but may include: hypotonia, tapered digits, “carp-like” mouth, mental retardation, and hearing impairment. Growth failure (GF; both weight and height <3%) was reported in 80% of affected individuals. We evaluated growth hormone (GH) sufficiency in 5 18q- syndrome patients, 3 of whom had growth failure (<3% weight and height); the remaining 2 had normal growth parameters. Laboratory evaluation of growth included measurement of IGF-1, IGFBP-3, bone ages and GH response to pituitary provocative agents. Three patients failed to produced adequate GH following stimulation testing. Of 3 patients with inadequate GH production, 1 had normal growth (above 3%). Only 1 of 5 patients had normal GH production and normal growth parameters. Our findings to date suggest that GH deficiency is common in individuals with the 18q- syndrome. The pathogenesis of this finding is unknown. We postulate that a gene(s) on 18q is involved in GH production. Am. J. Med. Genet. 69:7–12, 1997. © 1997 Wiley-Liss, Inc. 相似文献
3.
Nogueira SI Hacker AM Bellucco FT Christofolini DM Kulikowski LD Cernach MC Emanuel BS Melaragno MI 《European journal of medical genetics》2008,51(3):226-230
Deletions in region 22q11.2 usually occur between two low copy repeat regions (LCRs), which are preferred chromosome sites for rearrangements. Most of the deletions encompass the same 3 or 1.5 Mb region, with breakpoints at LCR A and D or at LCR A and B, respectively. We report on a patient with clinical features of the 22q deletion syndrome who presents a novel, atypical deletion, smaller than 1.5 Mb, with distal breakpoint in LCR B and proximal breakpoint within no known LCR site. 相似文献
4.
Cytogenetic and molecular cytogenetic studies of a case of interstitial deletion of proximal 15q 总被引:3,自引:0,他引:3
Vijay Tonk Herman E. Wyandt Peter Osella James Skare Bai Lin Wu Bassem Haddad Aubrey Milunsky 《Clinical genetics》1995,48(3):151-155
A 4-month-old child with multiple anomalies was determined to have an interstitial deletion of chromosome 15, i.e., del(15) (q12q14). The deletion appears not to be a typical deletion of 15q12 such as seen in Angelman and Prader-Willi syndromes, but appears to be more distal, involving either loss of all of 15q12 and part of 15q14, or part of 15q12 and most of 15q14. In either case, 15q13 is missing. Fluorescent in situ hybridization with probes for 15 centromere (D15Z), pericentromeric satellite sequences (D15Z1), and chromosome 15 painting probes shows the deleted chromosome to involve only 15 and no other acrocentric chromosome. Hybridization with probes for the AS and PWS loci (D15S11 and GABAB3, Oncor) show both sites to be intact in the deleted 15. The case is compared with two other reports with overlapping interstitial deletions of proximal 15q, neither of which shows typical features of Angelman or Prader-Willi syndromes. 相似文献
5.
Clinical phenotype associated with terminal 2q37 deletion 总被引:3,自引:0,他引:3
Beth Conrad Gordon Dewald Eric Christensen Michaelene Lopez James Higgins Mary Ella Pierpont 《Clinical genetics》1995,48(3):134-139
Three children with deletions of the terminal portion of the long arm of chomosome 2 [del (2) (q37)] are described and their clinical findings compared to published cases of 2q terminal deletions. Common clinical findings include development delay, macrocephaly, frontal bossing, depressed nasal bridge and cardiac anomaly. Hypotonia and repetitive behavior are also seen during different times of development. The facial characteristics of children with 2q terminal deletions are not uniform, but development delay is a constant finding. Chromosomal analysis of such children using high resolution banding may uncover the diagnosis of a small chromosomal deletion. 相似文献
6.
M. Essaoui M. Nizon M.P. Beaujard A. Carrier J. Tantau M.C. de Blois S. Fontaine C. Michot J. Amiel J.P. Bernard T. Attié-Bitach M. Vekemans C. Turleau Y. Ville V. Malan 《European journal of medical genetics》2013,56(9):502-505
Discordant chromosomal anomalies in monozygotic twins may be caused by various timing issues of erroneous mitosis and twinning events. Here, we report a prenatal diagnosis of heterokaryotypic monozygotic twins discordant for phenotype. In a 28-year-old woman, ultrasound examination performed at 26 weeks of gestation, detected intrauterine growth restriction and unilateral cleft lip and palate in twin B, whereas twin A had normal fluid, growth and anatomy. Molecular karyotyping in twin B identified a 18q21.2qter deletion, further confirmed by FISH analysis on amniocytes. Interestingly, in twin A, cytogenetic studies (FISH analysis and karyotype) on amniocytes were normal. Genotyping with microsatellite markers confirmed the monozygosity of the twins. At 32 weeks of gestation, selective termination of twin B was performed by umbilical cord coagulation and fetal blood samples were taken from the umbilical cord in both twins. FISH analyses detected mosaicism in both twins with 75% of cells being normal and 25% harboring the 18qter deletion. After genetic counseling, the parents elected to terminate the second twin at 36 weeks of gestation. In postmortem studies, FISH analyses revealed mosaicism on several tissues in both twins. Taking into account this observation, we discuss the difficulties of genetic counseling and management concerning heterokaryotypic monozygotic twins. 相似文献
7.
Kristin G. Monaghan Daniel L. van Dyke Anne Wiktor Gerald L. Feldman 《American journal of medical genetics. Part A》1997,73(2):180-183
The most commonly reported manifestations of 16q deletions are severe growth and developmental disorders and anomalies of the craniofacial, visceral, and musculoskeletal systems. We reviewed the findings of patients reported with 16q- syndrome and compared them to our patient, a 4½-year-old boy with a deletion of 16q23.1. Findings include psychomotor retardation, hypotonia, high forehead, hypertelorism, upslanting palpebral fissures, low-set abnormally modeled ears, and talipes equinovarus. Anomalies present in our patient not reported in others with 16q- syndrome include bilateral cataracts, iris coloboma, and autistic-like behavior. It is of note that a locus for autosomal dominant congenital cataract, known as Marner cataract, was mapped previously to 16q22. Because our patient has bilateral cataracts and a unilateral iris coloboma, it seems likely that a gene involved in ocular development is located within 16q23.1. Our patient's deletion may also include the gene involved in Marner cataract and may further assist in the isolation of this gene. Am. J. Med. Genet. 73:180–183, 1997. © 1997 Wiley-Liss, Inc. 相似文献
8.
Riegel M Hargreaves P Baumer A Guc-Scekic M Ignjatovic M Schinzel A 《European journal of medical genetics》2005,48(2):435-174
We describe a patient in whom full monosomy 21 was initially assumed from routine GTG-banded karyotyping. Re-examination with chromosome painting demonstrated an unbalanced translocation between the long arms of chromosomes 18 and 21. Fluorescence in situ hybridisation (FISH) and microsatellite marker analysis revealed partial monosomy of chromosome 21 (pter-q21) and 18(q22-qter). The patient, 18 years old at the second examination, revealed multiple dysmorphic features, genital hypoplasia, dilated cerebral ventricles, muscular hypotonia and severe mental retardation. In not one out of all patients investigated postnatally in whom an initial examination had revealed monosomy 21, this could be confirmed by FISH; in all of them, re-examination detected an unbalanced rearrangement leading to only partial monosomy 21 plus partial monosomy of another chromosome to which the distal 21q segment was attached. Thus, it is still highly likely that full monosomy 21 is incompatible with intra-uterine survival. 相似文献
9.
Jannine D. Cody Courtney Sebold Patricia Heard Erika Carter Bridgette Soileau Minire Hasi-Zogaj Annice Hill David Rupert Brian Perry Louise O'Donnell Jon Gelfond Jack Lancaster Peter T. Fox Daniel E. Hale 《American journal of medical genetics. Part C, Seminars in medical genetics》2015,169(3):265-280
10.
Natalie Krasikov Kate Thompson Gurbax Singh Sekhon 《American journal of medical genetics. Part A》1992,43(3):531-534
This report of a patient with an interstitial deletion 18q and review of previously described cases suggest a clinically recognizable syndrome. The phenotype appears to result from a microdeletion of part of 18q12.2 or q12.3, or a deletion of parts of both bands. © 1992 Wiley-Liss, Inc. 相似文献
11.
Albert E. Chudley Sylvia Kovnats Manoranjan Ray 《American journal of medical genetics. Part A》1992,43(3):535-538
We describe a moderately retarded boy with a chromosome 18 deletion involving the regions q11.2q12.2. His phenotype is similar to that of other reported cases of proximal interstitial deletions involving 18q. We also provide follow-up information on the first 4 cases of proximal interstitial deletion of 18q from a family with a complex chromosome rearrangement originally reported in 1974. © 1992 Wiley-Liss, Inc. 相似文献
12.
John Nixon Michael Oldridge Andrew O. M. Wilkie Kim Smith 《American journal of medical genetics. Part A》1997,70(3):324-327
We report on the clinical and cytogenetic findings in a 9-year-old boy with a de novo deletion of 2q, shown by molecular analysis to have arisen from the paternal chromosome. Examination of microsatellite markers indicated deletion of bands 2q24.3 and 2q31. Clinical findings included craniosynostosis, bilateral ocular colobomata, and limb abnormalities, the latter being an emerging association with deletion of this region of 2q. Am. J. Med. Genet. 70:324–327, 1997. © 1997 Wiley-Liss, Inc. 相似文献
13.
Nicolas Chatron Véronique Haddad Joris Andrieux Julie Désir Odile Boute Anne Dieux Clarisse Baumann Séverine Drunat Marion Gérard Céline Bonnet Bruno Leheup Marianne Till Massimiliano Rossi Elisabeth Flori Yves Alembik Helen Stewart Joanna McParland Laura Bernardini Pia Castelluccio Laura Roos Zeynep Tümer Kerry Fagan Anna Hackett Nicole Bain Arie van Haeringen Claudia Ruivenkamp Brigitte Benzacken Damien Sanlaville Patrick Edery Azzedine Aboura Caroline Schluth‐Bolard 《American journal of medical genetics. Part A》2015,167(5):1008-1017
14.
Miriam G. Wilson Joseph W. Towner Irene Forsman Evelyn Siris Robert L. Summitt 《American journal of medical genetics. Part A》1979,3(2):155-174
We studied eight persons whose karyotypes demonstrated deletion of a portion of the long arm of chromosome 18. Seven of these persons who showed the typical del(18q) syndrome had a common deletion in band 18q21, most likely band q21.3, and in at least two persons the deletion was interstitial. Another mentally retarded child, dissimilar in appearance, had a more proximal deletion within band 18q12. Two different clinical syndromes resulted from deletions of these different segments of the long arm of chromosome 18. 相似文献
15.
O. Thomas Mueller Boris G. Kousseff Doris P. Dumont Julia A. McFarland Fayaz Mawani Danielle Conforto Judith D. Ranells 《American journal of medical genetics. Part A》2001,102(2):192-199
We report on a 3.5‐year‐old girl with a mosaic karyotype including full trisomy 18, normal cells and a majority of cells with partial trisomy involving an extra chromosome 18 deleted at band q22. She had cardiac and CNS anomalies, dysmorphic facial features failure to thrive and developmental delay. A gastrostomy tube was placed at 2 years of age. The combination of improved nutrition and optimal developmental therapy has led to her sitting supported, attempting to stand and enhancement of her cognitive and non‐verbal communication abilities. Molecular investigation of the patient and her parents using microsatellite analysis has led to the conclusion that, as expected, the additional copy of chromosome 18 constituting the full trisomic cell line is maternal meiosis I in origin. The data, however, indicate that in the trisomic cell line containing the deleted chromosome 18q, the structurally abnormal 18 was of paternal origin. We think this case is the first described with both structural and numerical trisomic mosaicism involving chromosome 18 in a liveborn infant. We propose a mechanism of origin and review the literature, comparing the clinical presentation of this case with individuals having full or partial trisomy 18. © 2001 Wiley‐Liss, Inc. 相似文献
16.
Enkhtuvshin Gereltzul Yoshiyuki Baba Naoto Suda Momotoshi Shiga Maristela Sayuri Inoue Michiko Tsuji Insik Shin Yukio Hirata Kimie Ohyama Keiji Moriyama 《Journal of human genetics》2008,53(10):941-946
This is a report of a 27-year-old woman with an unusual de novo chromosomal abnormality. Mosaicism was identified in peripheral
blood cells examined by standard G-bands by trypsin using Giemsa (GTG) analysis and fluorescence in situ hybridization (FISH)
analysis with chromosome-18 region-specific probes, 46,XX,del(18)(pter → q21.33:)[41], 46,XX,r(18)(::p11.21 → q21.33::)[8],
and 46,XX,der(18)(pter → q21.33::p11.21 → pter)[1]. On the other hand, the karyotype of periodontal ligament fibroblasts was
nonmosaic, 46,XX, der(18)(pter → q21.33::p11.21 → pter)[50]. All cell lines appeared to be missing a portion of 18q (q21.33 → qter).
The pattern of the dup(18p)/del(18q) in the rod configuration raises the possibility of an inversion in chromosome 18 in one
of the parents. However, no chromosomal anomaly was detected in either parent. The most probable explanation is that de novo
rod and ring configurations arose simultaneously from an intrachromosomal exchange. The unique phenotype of this patient,
which included primary hypothyroidism and primary hypogonadism, is discussed in relation to her karyotype. 相似文献
17.
18.
Velinov M Kupferman J Gu H Macera MJ Babu A Jenkins EC Kupchik G 《European journal of medical genetics》2005,48(1):51-55
A three year-old boy was evaluated because of growth and developmental delay, hypotonia and dysmorphic features. G-banding analysis revealed a small interstitial deletion of the long arm of chromosome four described as 46,XY,del (4)(q21.1q21.3). This patient's findings on physical exam included relative macrocephaly, frontal bossing, short fingers with clinodactyly and were consistent with the phenotypes of previously reported deletions involving the 4q21--> 4q22 band region (Am. J. Med. Genet. 68 (1997) 400-405). To date there are 10 reported live-born cases with such deletions and similar features. The case reported here delimits a minimal critical region for this phenotype to chromosomal region 4q21. Our patient was also found to have cysts in both his kidneys. The gene for type II polycystic kidney disease (PKD2) has been mapped to chromosomal region 4q21--> 4q23. FISH analysis, with a probe including the PKD2 gene, demonstrated hemizygosity at this locus. Thus the absence of one of the PKD2 alleles in the case reported here is associated with early bilateral cyst development. Kidney ultrasound/autopsy studies were reported in seven of the patients with the characteristic phenotype, and were positive for cysts in four cases including the one presented here (Clin. Genet. 31 (1987) 199-205; Am. J. Med. Genet. 68 (1997) 400-405; Am. J. Med. Genet. 40 (1991) 77-790. Our report supports the presence of a distinct phenotype associated with a deleted chromosomal region within 4q21. Hemizygosity for the PKD2 gene is likely in such deletions and may lead to renal cyst formation. 相似文献
19.
16q21 is critical for 16q deletion syndrome 总被引:1,自引:0,他引:1
K. Naritomi N. Shiroma Y. Izumikawa K. Sameshima S. Ohdo K. Hirayama 《Clinical genetics》1988,33(5):372-375
A 1-year-old girl with an interstitial deletion of the long arm of chromosome 16 is reported. She was characterized by a distinct craniofacial dysmorphism, meningoencephalocele, mild hydrocephalus, short neck, broad great toes and abnormally positioned toes. High resolution GTG and RBG banding analyses revealed a karyotype: 46,XX,del(16) (q13q22) de novo. An analysis of the smallest region of overlap revealed that the critical band region for 16q deletion syndrome is 16q21. 相似文献
20.
Cytogenetic and molecular characterization of a three-generation family with chromosome 5p terminal deletion 总被引:1,自引:0,他引:1
Fang JS Lee KF Huang CT Syu CL Yang KJ Wang LH Liao DL Chen CH 《Clinical genetics》2008,73(6):585-590
Terminal or interstitial deletion on the short arm of chromosome 5 is associated with a genetic disorder, cri-du-chat syndrome (cat cry syndrome), which is characterized by a cat-like cry in infancy, facial dysmorphism, microcephaly, and mental retardation. There is a high degree of variation in clinical presentations of patients with cri-du-chat syndrome, which is usually associated with different sizes and locations of deletions in chromosome 5p. Most patients with a 5p deletion have de novo mutations; familial 5p deletion is rare in literature. Here, we report a three-generation family with a 5p terminal deletion. The terminal 5p deletion (5p15.2-pter) in this family was confirmed and characterized by karyotyping analysis, fluorescent in situ hybridization, array comparative genome hybridization, and quantitative polymerase chain reaction. Although the affected family members apparently share deletions of the same size, there are some variations in mental symptoms within this family. Two affected females manifest moderate mental retardation and psychotic symptoms such as delusion of persecution, auditory hallucination, self-talking, and self-laughing, which are rare in cri-du-chat syndrome. In contrast, the other three affected males express mild-to-moderate mental retardation but no psychotic symptoms. Our study suggests that other factors besides the size and location of 5p deletions may modify the mental presentations of patients with 5p deletions. 相似文献