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1.
Sung Han Shim Chul‐Hoon Lee Young Joo Park Ho Joon Lee Won Il Park Youl Hee Cho 《American journal of medical genetics. Part A》2001,104(4):303-306
A 40‐year‐old, phenotypically normal woman, with a history of two repeated abortions and no child, had two additional, small, bisatellited, and apparently metacentric chromosomes. Various banding and microsatellite analyses indicated that the additional chromosomes were inv dup(15)(q11q11) without the Prader‐Willi/Angelman syndromes critical region, and therefore without phenotypic effects. Her father had a single, identical additional inv dup(15) chromosome. Her husband was chromosomally normal, but sperm analysis indicated a reduced motility and a reduced frequency of morphologically normal sperm. In view of these findings, it was deduced that the inv dup(15) chromosome in the father was transmitted in duplicate to the woman. Individuals with two additional inv dup(15) chromosomes in the literature were reviewed, and possible correlation of the two additional inv dup(15) chromosomes in the woman and her repeated abortions was discussed. © 2001 Wiley‐Liss, Inc. 相似文献
2.
Recurrent neuroleptic malignant syndrome associated with inv dup(15) and mental retardation 总被引:2,自引:0,他引:2
Neuroleptic malignant syndrome (NMS) is an uncommon but serious adverse reaction to neuroleptic drugs. Clinically, it resembles malignant hyperthermia, a pharmacogenetic disorder of anesthesiology. Inv dup(15) is a rare but underrecognized cause of mental retardation among institutionalized patients. NMS and inv dup(15) have not been previously reported together. Their association should encourage clinicians to search for genetic markers for NMS. 相似文献
3.
4.
C. A. Williams R. T. Zori J. W. Stone B. A. Gray E. S. Cantu H. Ostrer 《American journal of medical genetics. Part A》1990,35(3):350-353
Six persons with the classical Angelman syndrome (AS) phenotype and de novo deletions of chromosome 15q11-q13 were studied to determine the parental origin of the chromosome deletion. Four of the 6 patients had informative cytogenetic studies and all demonstrated maternal inheritance of the deletion. These findings, together with other reported cases of the origin of the chromosome 15 deletion in AS, suggest that deletion of the maternally contributed chromosome leads to the AS phenotype. This contrasts with the Prader-Willi syndrome (PWS) in which a similar deletion of the paternally contributed chromosome 15 is observed. In deletion cases, a parental gamete effect such as genomic imprinting may be the best model to explain why apparently identical 15q11-q13 deletions may develop the different phenotypes of AS or PWS. 相似文献
5.
Wendy L. Flejter Pamela E. Bennett-Baker Mohammad Ghaziuddin Marie McDonald Susan Sheldon Jerome L. Gorski 《American journal of medical genetics. Part A》1996,61(2):182-187
A variety of distinct phenotypes has been associated with supernumerary inv dup(15) chromosomes. Although different cytogenetic rearrangements have been associated with distinguishable clinical syndromes, precise genotype-phenotype correlations have not been determined. However, the availability of chromosome 15 DNA markers provides a means to characterize inv dup(15) chromosomes in detail to facilitate the determination of specific genotype-phenotype associations. We describe 2 patients with an autistic disorder, mental retardation, developmental delay, seizures, and supernumerary inv dup(15) chromosomes. Conventional and molecular cytogenetic studies confirmed the chromosomal origin of the supernumerary chromosomes and showed that the duplicated region extended to at least band 15q13. An analysis of chromosome 15 microsatellite CA polymorphisms suggested a maternal origin of the inv dup(15) chromosomes and biparental inheritance of the two intact chromosome 15 homologs. The results of this study add to the existing literature which suggests that the clinical phenotype of patients with a supernumerary inv dup(15) chromosome is determined not only by the extent of the duplicated region, but by the dosage of genes located within band 15q13 and the origin of the normal chromosomes 15. © 1996 Wiley-Liss, Inc. 相似文献
6.
Suzanne B. Cassidy Horace C. Thuline Vanja A. Holm John M. Opitz 《American journal of medical genetics. Part A》1984,17(2):485-495
Deletion of the long arm of chromosome 15 has recently been reported in a number of patients with the Prader-Labhart-Willi syndrome who were studied with prometaphase banding. We performed cytogenetic analysis on 12 patients with this disorder in whom the clinical diagnosis was certain. A specific cytogenetic anomaly, del(15q11 – 13) was found in all of the 12 patients. In nine of the 12, the deletion was noted in all cells examined; in two, there was mosaicism, some cells having the deletion and others being normal; one patient had a 7;15 translocation. No clinical differences were evident between individuals with mosaicism for the translocation and those with the typical deletion in all cells examined. The finding that all of our patients with Prader-Labhart-Willi syndrome have a cytogenetic anomaly, with some patients having mosaicism, distinguishes the results of this study from those of previous reports. Prometaphase chromosome analysis is recommended in all individuals clinically suspected of having Prader-Labhart-Willi syndrome and should be considered in hypotonic infants without a specific diagnosis. 相似文献
7.
James F. Reynolds Art Daniel Joan FitzGerald John M. Opitz 《American journal of medical genetics. Part A》1987,28(1):55-58
We report on a 10-year-old boy with an interstitial deletion within the region of bands 15q11 → q13. Authors have associated the manifestation of the Prader-Willi syndrome (PWS) with variable deletions involving the bands q11 → q13. Our patient had atypical manifestations not usually associated with PWS, ie, normal stature, proportionally sized hands and feet, normal genitalia, and was nonambulatory and severely mentally retarded. This case emphasized the clinical diversity seen in proximal 15q deletions in the region considered to be correlated with the PWS. 相似文献
8.
Ron C. Michaelis Steven A. Skinner Bonn A. Lethco Richard J. Simensen Timothy A. Donlon Jack Tarleton Mary C. Phelan 《American journal of medical genetics. Part A》1995,55(1):120-126
Deletions of 15q11-q13 typically result in Angelman syndrome when inherited from the mother and Prader-Willi syndrome when inherited from the father. The critical deletion region for Angelman syndrome has recently been restricted by a report of an Angelman syndrome patient with a deletion spanning less than 200 kb around the D15S113 locus. We report here on a mother and son with a deletion of chromosome 15 that includes the D15S113 locus. The son has mild to moderate mental retardation and minor anomalies, while the mother has a borderline intellectual deficit and slightly downslanting palpebral fissures. Neither patient has the seizures, excessive laughter and hand clapping, ataxia or the facial anomalies which are characteristic of Angelman syndrome. The proximal boundary of the deletion in our patients lies between the D15S10 and the D15S113 loci. Our patients do not have Angelman syndrome, despite the deletion of the D15S113 marker. This suggests that the Angelman syndrome critical deletion region is now defined as the overlap between the deletion found in the previously reported Angelman syndrome patient and the region that is intact in our patients. © 1995 Wiley-Liss, Inc. 相似文献
9.
Vijay Tonk Roger A. Schultz Susan L. Christian Takeo Kubota David H. Ledbetter Golder N. Wilson 《American journal of medical genetics. Part A》1996,66(4):426-428
A balanced Robertsonian translocation 45,XY,t(15q15q) was detected in a patient with mental retardation, microcephaly, and hypertonia. Deletion of the 15q11q13 region was unlikely based on fluorescence in situ hybridization studies that revealed hybridization of appropriate DNA probes to both arms of the Robertsonian chromosome. Inheritance of alleles from 13 highly polymorphic DNA markers on chromosome 15 showed paternal uniparental isodisomy. The clinical, cytogenetic, and molecular results are consistent with a diagnosis of Angelman syndrome. © 1996 Wiley-Liss, Inc. 相似文献
10.
Deletion of 15q12 has been reported in patients with Angelman syndrome (AS). We report chromosome studies showing del(15q12) in three new cases, diagnosed as having AS. We were also able to determine, through heteromorphism studies, that the origin of the deleted chromosome in all three probands is maternal. This is a consistent finding in previously reported cases of AS. 相似文献
11.
The origin of an extra marker chromosome in a patient with mental retardation and intractable epilepsy was ascertained by DNA analysis. Gene dose and restriction fragment length polymorphism (RFLP) studies of D15S9 proved that the patient was tetrasomic for the gene and that the extra chromosome was of maternal origin. On the basis of the molecular findings, further detailed GTG-banded chromosome analysis interpreted the marker chromosome as inv dup(15)(pter----q14::q14----pter). The clinical manifestations of the patient are consistent with those of the patients previously described. 相似文献
12.
Unusual clinical features in an Angelman syndrome patient with uniparental disomy due to a translocation 15q15q 总被引:1,自引:0,他引:1
Cintia Fridman Monica C Varela Robert D Nicholls Célia P Koiffmann 《Clinical genetics》1998,54(4):303-308
We had previously described a patient with an overgrowth syndrome and the chromosome constitution 45,XY,t(15q15q) (Wajntal et al., DNA Cell Biol 1993: 12: 227–231). Clinical reassessment and the use of molecular studies, including methylation analysis with an SNRPN probe, microsatellite analyses of D15S11 , GABRB3 and D15S113 loci, and fluorescence in situ hybridization (FISH) using the SNRPN and GABRB3 probes, are consistent with a diagnosis of Angelman syndrome (AS) due to paternal isodisomy. This is the fourth report case of a translocation 15q15q with paternal uniparental disomy (UPD). Our findings suggest that some patients with clinical features of AS have hyperphagia and obesity with overgrowth, and that these features should not rule out a diagnosis of AS. 相似文献
13.
Angelman syndrome with a chromosomal inversion 15 inv(p11q13) accompanied by a deletion in 15q11q13.
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T Webb J Clayton-Smith X J Cheng J H Knoll M Lalande M E Pembrey S Malcolm 《Journal of medical genetics》1992,29(12):921-924
A family is described in which an inversion of chromosome 15, 15 inv(p11q13), is segregating. All family members are healthy except the proband who is a 10 year old boy with Angelman syndrome. Although the chromosomal inversion has been passed from the grandfather to both his son and his daughter with no ill effect, passage from daughter to grandson has resulted in a deletion of chromosome 15 material which is presumed to be the cause of Angelman syndrome in this boy. The probabilities of an inversion of this type being instrumental in causing the syndrome are discussed. 相似文献
14.
Laura A.E.M. Laan Dicky J.J. Halley Annemieke Th. den Boer Raoul C.M. Hennekam Willy O. Renier Oebele F. Brouwer 《American journal of medical genetics. Part A》1998,76(3):262-268
The clinical findings in 12 Angelman syndrome (AS) patients (4 sib pairs and 4 sporadic cases, aged 12–55 years) without a cytogenetic or molecular detectable defect at the AS locus were compared to those of 28 AS patients (aged 11–50 years) with a deletion, in order to determine whether the clinical spectrum differed between the two groups. There were only two minor differences, i.e., mandibular prognathism was always found in the patients with a defect (100% vs. 58%), whereas truncal hypotonia was found less frequently in the group with a detectable genetic defect (54% vs. 91%). All other clinical and physical characteristics were equally represented in the two groups. Epileptic seizures occurred in 93% and 75%, respectively, of patients with and without a detectable chromosome 15 defect. Specific EEG patterns were found in 90% of both groups. The clinical signs and symptoms of our patients closely resemble those in familial AS cases reported in the literature, with the exception of scoliosis, which was present in 55% of the patients in our study. We conclude that the absence of a detectable cytogenetic or molecular defect at the AS locus is not associated with a strikingly different AS phenotype, compared to those with such a defect. Mutation analysis of the UBE3A gene in our patients without a detectable genetic defect, especially in the familial cases, is currently underway. Am. J. Med. Genet. 76:262–268, 1998. © 1998 Wiley-Liss, Inc. 相似文献
15.
Yuji Yokoyama Kouji Narahara Kazushiro Tsuji Tadashi Moriwake Susumu Kanzaki Masae Murakami Hiroshi Namba Shinsuke Ninomiya Joji Higuchi Yoshiki Seino 《American journal of medical genetics. Part A》1992,42(5):660-664
A 28/12-year-old boy with severe growth failure and mental retardation was found to have a maternally derived tandem duplication of the long arm of X chromosome, dup(X) (q13.3→q21.2). Karyotypic interpretation was further confirmed in this patient by a double gene dose for red blood cell phosphoglycerate kinase. DNA replication study showed that the duplicated X chromosome was always late replicating in peripheral blood lymphocytes as well as in skin fibroblasts from the mother. Endocrine studies in the patient demonstrated growth hormone deficiency. Magnetic resonance imaging of the head then disclosed the empty sella syndrome. This appears to be the first report of a dup(Xq) patient associated with a growth hormone deficiency and the empty sella syndrome. We emphasize that duplication of the proximal Xq in males represents another microduplication syndrome (Thode-Leonard syndrome). 相似文献
16.
We report on two half-sibs, a male and a female with dup(13)(q1405 → qter) that resulted from a der(15),t(13;15)(15qter → 15q25::13q1405 → 13qter), h +, pat. Their manifestations were similar to those with duplication of the distal half 13q. The father was a balanced de novo translocation carrier. Since the der(15) had a long secondary constriction, it was possible to trace the site of the mutation to the germ cell of the patients paternal grandmother who had this distinctive long secondary constriction in one of her normal 15 chromosomes. 相似文献
17.
Masashi Mizuguchi Keiko Tsukamoto Yoshiyuki Suzuki Yasuo Nakagome 《Clinical genetics》1994,45(1):44-47
Deletion of a 15pter→q13 segment of maternal origin was observed in a mentally retarded infant. In addition to the symptoms common to deletions of proximal 15q, the phenotype included myoclonic epilepsy of early infantile onset. The deletion was caused by a 3:1 disjunction in the mother, who was a carrier of t(15;22) (13q;p11) translocation. 相似文献
18.
Jill Clayton-Smith Daniel J. Driscoll Michael F. Waters Tessa Webb Tony Andrews Sue Malcolm Marcus E. Pembrey Robert D. Nicholls 《American journal of medical genetics. Part A》1993,47(5):683-686
Abnormalities of chromosome region 15qll–13 are associated with Angelman syndrome (AS) and Prader–Willi syndrome (PWS). Differences between the methylation patterns of the region of chromosome 15qll–13 which hybridizes to the highly conserved DNA, DN34, in normal individuals and in patients with AS and PWS have been described. We report on a family in which first cousins are affected by AS and PWS as a result of a familial paracentric inversion of 15qll–ql3. The results of the studies on this family demonstrate the differences in the methylation patterns in the 2 conditions and the phenomenon of genomic imprinting, whereby genetic information is expressed differently dependent on the parent of origin. © 1993 Wiley-Liss, Inc. 相似文献
19.
D. Gadzicki A. Baumer E. Wey C. M. Happel C. Rudolph H. Tönnies H. Neitzel D. Steinemann K. Welte C. Klein B. Schlegelberger 《Annals of human genetics》2006,70(6):958-964
Here we report on a male infant presenting the typical pattern of Jacobsen syndrome including trigonocephaly, thrombocytopenia, congenital heart defect, urethral stenosis, and partial agenesis of the corpus callosum. Conventional karyotyping, FISH, SKY and CGH analyses showed that the region distal to the MLL locus on 11q23 was lost and replaced by the distal region of 11p, leading to a partial trisomy of 11p and a partial monosomy of 11q. According to ISCN (1995) the karyotype can be described as 46,XY,add(11)(q2?3). ish 11ptel(D11S2071x3),11qtel(VIJyRM2072x1). Array‐CGH analysis allowed us to narrow down the breakpoints to 11p15.1 and 11q24.1. Methylation analyses of genes located on 11p showed an increased level of the non‐methylated paternal allele of the KCNQ1OT1 gene, confirming the concomitant presence of Beckwith‐Wiedemann syndrome (BWS). The phenotype resulting from the 11q deletion seems to dominate the phenotype due to the distal 11p trisomy. Investigation of the parents revealed that this chromosomal rearrangement was caused by a paternal pericentric inversion inv(11)(p15q24). Since chromosomal aberrations like the one described here can easily be overlooked during routine chromosome analysis, combined FISH analysis using subtelomeric and possibly additional probes should be applied if there is any doubt about the integrity of telomeric regions. 相似文献
20.
Jonathan P. Park Malanie K. McDermet Ann M. Doody J. Miguel Marin-Padilla John B. Moeschler Doris H. Wurster-Hill 《American journal of medical genetics. Part A》1993,45(1):46-48
Cases of duplication of distal 11q or proximal 13q have been reported independently. A specific translocation resulting in duplication of distal 11q, [der(22)t(11;22)(q23;q11)], has been documented in over 40 cases. We report on a male fetus with chromosomal excess of both distal 11q and proximal 13q resulting from a familial translocation. This case supports the causal association of duplication 11q with neural tube defects. © 1993 Wiley-Liss, Inc. 相似文献