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81.
Patricia Y. Fechner Kirby D. Smith Ethylin Wang Jabs Claude J. Migeon Gary D. Berkovitz 《American journal of medical genetics. Part A》1992,42(6):807-812
We evaluated a patient with partial gonadal dysgenesis including a right dysgenetic testis and a left streak gonad with rudimentary fallopian tube and uterus. She had ambiguous external genitalia and was raised female. Although her height is normal (25th centile at age 12 years), she has some findings of Ullrich–Turner syndrome. Her karyotype was reported to be 46, X, + marker; subsequent molecular investigations showed the marker to be the short arm of the Y chromosome. Genomic DNA, isolated from leukocytes of the patient and her father, was digested with a variety of restriction endonucleases and subjected to Southern blot analysis. A positive hybridization signal was obtained with probes for the short arm of the Y chromosome (pRsY0.55, SRY, ZFY, 47Z, pY-190, and YC-2) in DNA from the patient, indicating the presence of most if not all of the short arm, while long arm probes (HinfA and pY3.4) indicated that at least 75% of the long arm of the Y chromosome was missing. The gene responsible for testicular determination (TDF) is on the distal portion of the short arm of the Y chromosome; Yq has no known influence on sex determination. Hence, the deletion of the long arm of the Y chromosome cannot explain the gonadal dysgenesis in this patient. One explanation for the gonadal dysgenesis and Ullrich–Turner phenotype in the patient could be undetected 45, X/46,X, + marY mosaicism but no such mosaicism was observed in peripheral lymphocytes. Several investigators have suggested the presence of an “anti-Turner” gene near TDF. Hence it is possible that the clinical phenotype in our patient results from a Y chromosomal defect in sequences flanking TDF, which reduces the function of both TDF and the “anti-Turner” genes. 相似文献
82.
Suzan R. Ismail Boris G. Kousseff Samia M. Kotb Soha F. Kholeif 《American journal of medical genetics. Part A》1991,38(4):518-522
We report on a 2.5-month-old boy with hypertelorism, hypertrichosis, anteverted nostrils, malformed ears, thin lips, downturned corners of the mouth, micrognathia, short neck, cryptorchidism, and bilateral simian creases without limb anomalies. Cytogenetic studies showed a duplication 3q → qter 46,XY,der(6),t(3;6)(q21;p25)pat. The absence of limb anomalies is noteworthy; all 12 previously reported patients with the same duplication had limb anomalies. The uniqueness of this report provokes speculations regarding limb morphogenesis in embryos with chromosome anomalies. The concepts of chronogenetics, heterochrony, and developmental field defects appear relevant to yet another set of patients with chromosome anomalies. 相似文献
83.
M. Shohat V. Herman S. Melmed N. Neufeld R. Schreck S. Pulst J. M. Graham D. L. Rimoin J. R. Korenberg 《American journal of medical genetics. Part A》1991,39(1):56-63
Using a molecular analysis of the DNA from a patient with a deletion of chromosome 20 [46,XX,del(20)(p11.23)], we have excluded the growth hormone-releasing hormone (GHRH) gene from the region 20p11.23→pter. The patient had minor facial anomalies, Rieger eye anomaly, a congenital heart defect, severe failure to thrive, and a neurosecretory problem in growth hormone (GH) secretion. Since the GHRH gene was previously mapped to chromosome 20, we used molecular genetic methods to determine whether the growth abnormalities were due to the deletion of this gene. DNAs of the patient and 2 normal control subjects were analyzed by quantitative Southern blotting using a DNA probe for the GHRH gene and 2 reference DNA probes mapping to chromosome 21. The GHRH gene was found to be present in 2 copies in the patient. This indicates that the gene for GHRH maps to the region outside the patient's deletion, in 20p11.23→qter. Furthermore, our results suggest that genes other than GHRH on 20p are important for developmental steps leading to normal neurosecretory function of GH and may also be involved in generating Rieger eye anomaly. Finally, GH deficiency and Rieger eye anomaly should be sought in other patients with deletions of 20p. 相似文献
84.
Klinefelter syndrome is a common cause for mental retardation of unknown etiology among prepubertal males 总被引:1,自引:0,他引:1
Klinefelter syndrome (KS) has not typically been associated with mental retardation (MR), however, in recent years a growing body of evidence suggested that KS boys often experience language deficits and academic difficulties. In this study, we screened DNA samples from 1205 patients originally referred for fragile X syndrome (FRAX) testing, because of MR of unknown etiology and detected 8 KS patients. A similar number of males in the same age group were found to have FRAX; 3 of them had a family history of FRAX. Based on these findings, KS might be the most common cause of MR of unknown etiology among prepubertal males. Because of the significant benefits of early recognition and treatment of KS, we emphasize the importance of cytogenetic testing of all prepubertal males with cognitive impairment even without dysmorphic features. 相似文献
85.
Lura Brianna Caddle Jeremy L. Grant Jin Szatkiewicz Johann van Hase Bobbi-Jo Shirley Joerg Bewersdorf Christoph Cremer Alain Arneodo Andre Khalil Kevin D. Mills 《Chromosome research》2007,15(8):1061-1073
Radiation exposure is an occupational hazard for military personnel, some health care professionals, airport security screeners,
and medical patients, with some individuals at risk for acute, high-dose exposures. Therefore, the biological effects of radiation,
especially the potential for chromosome damage, are major occupational and health concerns. However, the biophysical mechanisms
of chromosome instability subsequent to radiation-induced DNA damage are poorly understood. It is clear that interphase chromosomes
occupy discrete structural and functional subnuclear domains, termed chromosome territories (CT), which may be organized into
‘neighborhoods’ comprising groups of specific CTs. We directly evaluated the relationship between chromosome positioning,
neighborhood composition, and translocation partner choice in primary lymphocytes, using a cell-based system in which we could
induce multiple, concentrated DNA breaks via high-dose irradiation. We critically evaluated mis-rejoining profiles and tested
whether breaks occurring nearby were more likely to fuse than breaks occurring at a distance. We show that CT neighborhoods
comprise heterologous chromosomes, within which inter-CT distances directly relate to translocation partner choice. These
findings demonstrate that interphase chromosome arrangement is a principal factor in genomic instability outcomes in primary
lymphocytes, providing a structural context for understanding the biological effects of radiation exposure, and the molecular
etiology of tumor-specific translocation patterns. 相似文献
86.
Shanlee M. Davis Mitchell E. Geffner 《American journal of medical genetics. Part C, Seminars in medical genetics》2019,181(1):60-66
Individuals with Turner syndrome (TS) have a higher morbidity and mortality compared to the general population. Diabetes and cardiovascular disease are the major contributors to this burden. Precursors to diabetes and cardiovascular disease make up what is known as metabolic syndrome, including abdominal obesity, hypertension, dyslipidemia, and elevated fasting glucose. These features of poor cardiometabolic health are also prevalent among women with TS. Youth with TS also exhibit many of these features, indicating that the pathogenesis of these cardiometabolic conditions may begin early in life. The etiology of the increased risk of cardiometabolic conditions in TS is likely multifactorial, involving genetics, epigenetics, hypogonadism, medical comorbidities, medications, and lifestyle. Counseling for the increased risk of cardiometabolic diseases as well as efforts to prevent or lower this risk should be routinely provided in the care of all patients with TS. Clinical practice guidelines are now available to guide screening and treatment of cardiometabolic conditions in girls and women with TS. 相似文献
87.
Miguel Urioste María Luisa Martínez-Frías Eva Bermejo Nicols Jimnez Dolores Romero Carmen Nieto Amelia Villa 《American journal of medical genetics. Part A》1994,49(1):94-97
We report on a newborn infant with clinical and radiological manifestations of some type of short rib-polydactyly syndrome who died soon after birth. Chromosomal studies on peripheral blood lymphocytes and chondrocytes demonstrated an apparently balanced pericentric inversion of chromosome 4 (present in the mother also). This association may have occurred by chance but, if not, the chromosomal breakpoints could interrupt the gene responsible for short rib-polydactyly syndromes, or else be related to the mechanism of short rib-polydactyly syndromes. © 1994 Wiley-Liss, Inc. 相似文献
88.
Jun Nakura Lin Ye Koichi Kihara Hidehisa Yamagata Kouzin Kamino Yusuke Nakamura Tetsuro Miki Toshio Ogihara 《Journal of human genetics》1995,40(3):281-282
Two polymorphic dinucleotide (CA) repeat clones were isolated from cosmids, cCI8-1121 and cCI8-1199, mapped to chromosome 8p11.2-p12. 相似文献
89.
Ulf Kristoffersson Sverre Heim Nils Mandahl Lennart Sundkvist Jan Szelest Inga Hägerstrand 《Clinical genetics》1987,32(3):169-171
A child with multiple anomalies, including growth retardation, a left-sided diaphragmatic hernia with lung hypoplasia, and cerebral malformations is described. Cytogenetic investigation demonstrated a deletion of the distal part of one chromosome 15, del(15)(q24qter), an aberration not previously described. Family studies revealed that the mother had a balanced translocation, t(6;15)(p25;q24). Two of her subsequent pregnancies resulted in abortions after prenatal diagnosis: one fetus was trisomic for 15q24→qter, while the other had monosomy 15q24→qter and a left-sided diaphragmatic hernia similar to the first child. 相似文献
90.
Gunilla Caisander Hannah Park Katarina Frej Jenny Lindqvist Christina Bergh Kersti Lundin Charles Hanson 《Chromosome research》2006,14(2):131-137
There have been recent reports of human embryonic stem cell (hESC) lines developing chromosomal aberrations after long-term
culture, indicating an unstable genomic status due to the in vitro milieu. This raises concern, since it would limit their use in therapeutics. In this study the chromosomal status of five
well-characterized hESC lines, SA002, SA002.5, AS034.1.1, SA121 and SA461, was monitored during long-term in vitro culture. The criteria of defined hESCs were met by all of the five hESC lines (four diploid and one trisomic for chromosome
13). The genomes were screened for chromosomal aberrations and rearrangements using comparative genomic hybridization (CGH),
interphase fluorescence in situ hybridization (FISH) and traditional karyotyping on several occasions while in culture. The genomic integrity was shown to
be maintained after repeated freeze-thaw procedures and continuous culture in vitro for up to 22 months (148 passages). We discuss the most common de novo chromosomal aberrations reported in hESCs, as well as their possible origin. 相似文献