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1. |
Keratitis, hepatitis, ichthyosis, and deafness: Report and review of KID syndrome |
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American Journal of Medical Genetics,
Volume 40,
Issue 3,
1991,
Page 255-259
Golder N. Wilson,
Robert H. Squires,
Arthur G. Weinberg,
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摘要:
AbstractA 14‐year‐old girl with ichthyosis and severe liver disease is compared to 35 reported cases of KID or Senter syndrome. Common manifestations such as ichthyosis (35/35 patients), sensorineural deafness (33/34), “ectodermal dysplasia” (25/28), corneal abnormality (26/31) were present in the proposita, while less common manifestations such as chronic infections (15/20) and neuromuscular disease (12/35) were absent. Two families with vertical transmission and 28 sporadic cases are compatible with an autosomal dominant form of KID syndrome, while one inbred sibship with liver disease suggests the existence of an autosomal recessive form. The proposita was similar to the latter patients in having progressive cirrhosis necessitating liver transplantation; she also had short stature (10/35 patients) and mental retardation (3/35). Hepatic findings included micronodular cirrhosis, cholestasis, hyperplastic Kupffer cells, abundant Mallory's hyaline, copper accumulation without steatosis, and normal pero
ISSN:0148-7299
DOI:10.1002/ajmg.1320400302
出版商:Wiley Subscription Services, Inc., A Wiley Company
年代:1991
数据来源: WILEY
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2. |
Two cases of steroid sulfatase deficiency with complex phenotype due to contiguous gene deletions |
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American Journal of Medical Genetics,
Volume 40,
Issue 3,
1991,
Page 260-263
Shin‐Ichiro Nishimura,
Hiroyuki Masuda,
Takahiko Matsumoto,
Nobuo Sakura,
Tomoaki Matsumoto,
Kazuhiro Ueda,
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摘要:
AbstractWe report contiguous gene deletions in the distal short arm of the X chromosome in two patients with ichthyosis, due to steroid sulfatase deficiency, and other complex phenotypes. One patient had chondrodysplasia punctata (CDP) and ichthyosis with a normal chromosome constitution. Another patient had a CDP‐like phenotype, ichthyosis, and hypogonadism. His karyotype was 46, ‐X,Y, + der(X)t(X;Y)(p22;q11). DNA from the two patients was analyzed by Southern blotting using cloned fragments mapped in the Xp21‐Xpter region to investigate gene deletions. DNA from the patient with CDP showed a gene deletion of the STS, DXS31, and DXS89 loci, and DNA from the patient with X‐Y trans‐location lacked fragments of the STS, DXS31, DXS89, and DXS143 loci. These findings suggest that the common deleted region involving the STS locus might have caused the similar phenotypes in both
ISSN:0148-7299
DOI:10.1002/ajmg.1320400303
出版商:Wiley Subscription Services, Inc., A Wiley Company
年代:1991
数据来源: WILEY
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3. |
Jarcho‐Levin syndrome: Four new cases and classification of subtypes |
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American Journal of Medical Genetics,
Volume 40,
Issue 3,
1991,
Page 264-270
Pamela S. Karnes,
Deborah Day,
Susan A. Berry,
Mary Ella M. Pierpont,
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摘要:
AbstractThe Jarcho‐Levin syndrome is a condition manifested by vertebral body and related rib malformations. We report on four new cases and review 57 cases from the literature. Analysis of the 61 cases suggests that there are two major subtypes (spondylocostal dysostosis and spondylothoracic dysostosis) with different survival rates, associated malformations, and inheritance patterns. Individuals with spondylothoracic dysostosis have vertebral body malformations and ribs which flare in a fanlike pattern but which are not significantly malformed. This is an autosomal recessive trait, and the patients have a higher mortality rate and greater incidence of neural tube defects. Individuals with spondylocostal dysostosis have vertebral malformations, frequent dramatic rib malformations, and short stature, but do not have a fanlike thoracic configuration. Most cases of spondylocostal dysostosis are inherited in an autosomal recessive fashion, although in a few families it is a dominant trait which is correlated with better survival. Respiratory compromise previously accounted for the high mortality in these conditions, but improvements in respiratory technology have increased survival. Appropriate classification of these similar phenotypes will improve counseling concerning recurrence risk, management, and prognosi
ISSN:0148-7299
DOI:10.1002/ajmg.1320400304
出版商:Wiley Subscription Services, Inc., A Wiley Company
年代:1991
数据来源: WILEY
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4. |
Clinico‐pathological report: A 7‐year old white‐male boy with progressive neurological deterioration |
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American Journal of Medical Genetics,
Volume 40,
Issue 3,
1991,
Page 271-279
Lewis A. Barness,
Keith Henry,
Pamela Kling,
Renata Laxova,
Michael Kaback,
Enid Gilbert‐Barness,
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ISSN:0148-7299
DOI:10.1002/ajmg.1320400305
出版商:Wiley Subscription Services, Inc., A Wiley Company
年代:1991
数据来源: WILEY
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5. |
Partial duplication of Xp: A case report and review of previously reported cases |
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American Journal of Medical Genetics,
Volume 40,
Issue 3,
1991,
Page 280-283
Herman E. Wyandt,
Lucille Bugeau‐Michaud,
James C. Skare,
Aubrey Milunsky,
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摘要:
AbstractWe report clinical and cytogenetic findings on a 24‐year‐old woman with short stature, irregular menses, and other anomalies suggestive of Ullrich‐Turner syndrome (UTS). Chromosome analysis documented a de novo duplication of Xp21 without any apparent microscopic deletion. DNA studies showed that part of band Xp22.1 is also duplicated. The clinical findings are compared with 5 other patients with du
ISSN:0148-7299
DOI:10.1002/ajmg.1320400306
出版商:Wiley Subscription Services, Inc., A Wiley Company
年代:1991
数据来源: WILEY
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6. |
Pathogenetic mechanisms of fetal akinesia deformation sequence and oligohydramnios sequence |
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American Journal of Medical Genetics,
Volume 40,
Issue 3,
1991,
Page 284-289
José Ignacio Rodríguez,
José Palacios,
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摘要:
AbstractThis article briefly reviews the participation of fetal compression, muscular weakness, and fetal akinesia in the genesis of the anomalies found in fetal akinesia deformation sequence (FADS) and oligohydramnios sequence (OS). Both sequences share phenotypic manifestations, such as arthrogryposis, short umbilical cord, and lung hypoplasia, in relation to decreased intrauterine fetal motility. Other characteristic manifestations found in OS, such as Potter face, and redundant skin, are produced by fetal compression. On the other hand, growth retardation, craniofacial anomalies, micrognathia, long bone hypoplasia, and polyhydramnios found in FADS could be related to intrauterine muscular weakness.
ISSN:0148-7299
DOI:10.1002/ajmg.1320400307
出版商:Wiley Subscription Services, Inc., A Wiley Company
年代:1991
数据来源: WILEY
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7. |
Oculocerebrocutaneous (Delleman) syndrome: A pleiotropic disorder affecting ectodermal tissues with unilateral predominance |
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American Journal of Medical Genetics,
Volume 40,
Issue 3,
1991,
Page 290-293
Joe J. Hoo,
Kathleen Kapp‐Simon,
Beverly Rollnick,
Margaret Chao,
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摘要:
AbstractWe present a patient with oculocerebrocutaneous syndrome. The boy shows only mild psychomotor delay in spite of rather severe appearing anomalies of the central nervous system. A primarily unilateral involvement of this syndrome is emphasized. A postzygotic/somatic mutation resulting in a mosaic state might account for the primarily ectodermal involvement, the unilateral predominance, and the sporadic nature of this syndrome. An alternative hypothesis of an environmental factor might also explain the clinical manifestations of the syndrome.
ISSN:0148-7299
DOI:10.1002/ajmg.1320400308
出版商:Wiley Subscription Services, Inc., A Wiley Company
年代:1991
数据来源: WILEY
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8. |
Immunoglobulin class and subclass deficiencies prior to Epstein‐Barr virus infection in males with X‐linked lymphoproliferative disease |
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American Journal of Medical Genetics,
Volume 40,
Issue 3,
1991,
Page 294-297
Helen L. Grierson,
James Skare,
John Hawk,
Mary Pauza,
David T. Purtilo,
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摘要:
AbstractPatients with X‐linked lymphoproliferative (XLP) disease are characterized by extreme vulnerability to Epstein‐Barr virus (EBV). Following infection with EBV, affected males develop fatal infectious mononucleosis (IM), hypogammaglobulinemia (H), or non‐Hodgkin's lymphoma (NHL). In addition, hyper IgM, red cell aplasia, necrotizing lymphoid vasculitis (NLV), and aplastic anemia occur rarely. The recent use of DNA restriction fragment length polymorphism (RFLP) probes in linkage with the XLP gene now permit detection of affected males prior to primary EBV infection. We have measured immunoglobulin class and subclass levels in sera from EBV‐negative males who were either positive or negative for the XLP genotype by RFLP analysis. Elevated IgA or IgM and/or variable deficiency of IgG, IgG1, and IgG3occurred in the sera of 13/13 RFLP‐positive, EBV‐negative males. No consistent abnormalities were noted in 14 RFLP‐negative, EBV‐negative males. We conclude that the immune defect in XLP is not solely EBV‐specific, although EBV is responsible for most of the morbidity and all of the mortality. Further, serial measurement of Ig levels may provide information regarding status of EBV‐negative males at risk where RFLP analysis is uninformative or in families where sporadic cases of fatal IM, acquired hypogammaglobulinemia or NHL have occurred, but wherein the genotype of XLP c
ISSN:0148-7299
DOI:10.1002/ajmg.1320400309
出版商:Wiley Subscription Services, Inc., A Wiley Company
年代:1991
数据来源: WILEY
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9. |
Characteristics of the postcounseling reproductive decision‐making process: An explorative study |
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American Journal of Medical Genetics,
Volume 40,
Issue 3,
1991,
Page 298-303
Petra G. Frets,
Frans Verhage,
Martinus F. Niermeijer,
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摘要:
AbstractAn in‐depth, recorded interview of 30 couples 2–3 years after genetic counseling explored the characteristics of the postcounseling decision‐making process, including the role of guilt feelings towards the proband. The study concerned couples with an affected child, sib, or spouse. Results were evaluated by 2 to 4 judges. In contrast to other studies, a generally unstructured decision‐making process was found whereby guilt feelings played a significant role in more than half the couples. Guilt feelings were more predominant in couples with an affected sib than in those with an affected spouse. Lack of structure did not seem to complicate the decision‐making process. Therefore, authors do not advocate promotion of structuring the decision‐making process. Genetic counselors might focus on understanding counselees' feelings concerning the reproductive decision. Acceptance of apparently irrational considerations is particularly important, because these feelings indicate the influence of unconscious motives. Another important aspect of supporting counselees is to understand the role played by guilt feelings toward parents or an a
ISSN:0148-7299
DOI:10.1002/ajmg.1320400310
出版商:Wiley Subscription Services, Inc., A Wiley Company
年代:1991
数据来源: WILEY
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10. |
Spondylo‐metaphyseal dysplasia Algerian type: Confirmation of a new syndrome |
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American Journal of Medical Genetics,
Volume 40,
Issue 3,
1991,
Page 304-306
M. Rybak,
T. P. Foley,
K. Kozlowski,
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摘要:
AbstractWe report on a further case of a recently described type of spondylo‐metaphyseal dysplasia in a 1210/12‐year‐old Polish boy. The original paper described the disorder in five relatives in an Algerian f
ISSN:0148-7299
DOI:10.1002/ajmg.1320400311
出版商:Wiley Subscription Services, Inc., A Wiley Company
年代:1991
数据来源: WILEY
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